CDA p.Pro61=
c.183G>A · rs61735379 · VCV784935
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.73%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -13 | GERP -3.8 |
| Overall | ||
| CADD | 0.125 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.73%
African / African-American · 2,047/75,006 alleles
Filtering AF
2.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.59%
Overall
0.146%
2,359/1,613,456 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.73% | 37 |
| Remaining individualsnot grpmax-eligible | 0.213% | 470 |
| Admixed American | 0.167% | 600 |
| Middle Eastern | 0.066% | 1,516 |
| South Asian | 0.0121% | 8,264 |
| European (non-Finnish) | 0.00534% | 18,724 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,592 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CDA
- Protein
- p.Pro61=
- Coding
- c.183G>A
- MANE Select
- NM_001785
- dbSNP
- rs61735379
- Type
- single nucleotide variant
- Location
- chr1:20604956 (GRCh38)
- Gene constraint
- LOEUF 0.955 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 94.06 · 1 PDB
- Residue 61
- the cmp/dcmp-type deaminase domain; an α-helix
Similar variants
- CDA p.Gln92His Uncertain significance ★ ⚠ same type
- CDA p.Gly39Ala Uncertain significance ★ ⚠ same type
- CDA p.Ile87Leu Uncertain significance ★ ⚠ same type
- CDA p.Ile96Val Uncertain significance ★ ⚠ same type
- CDA p.Met117Ile Uncertain significance ★ ⚠ same type
- CDA p.Pro120Leu Uncertain significance ★ ⚠ same type
- CDA p.Thr123Met Uncertain significance ★ ⚠ same type
- CDA p.Thr128Met Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cda-p-pro61 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown