CCDC148 p.Glu387=
c.1161A>G · rs35617573 · VCV709607
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.33%, 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 2.8 | GERP 1.3, phastCons 1 |
| Overall | ||
| CADD | 9.481 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.33%
African / African-American · 996/74,754 alleles
Filtering AF
1.26%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.24%
Overall
0.0693%
1,114/1,608,514 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.33% | 75 |
| Admixed American | 0.0888% | 1,126 |
| Remaining individualsnot grpmax-eligible | 0.0738% | 1,356 |
| Middle Eastern | 0.0165% | 6,056 |
| South Asian | 0.0022% | 45,401 |
| European (non-Finnish) | 0.00136% | 73,677 |
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
- CCDC148
- Protein
- p.Glu387=
- Coding
- c.1161A>G
- MANE Select
- NM_138803
- dbSNP
- rs35617573
- Type
- single nucleotide variant
- Location
- chr2:158250862 (GRCh38)
- Gene constraint
- LOEUF 1.209 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.14
Similar variants
- CCDC148 p.Gln75Pro Benign ★★ ⚠ same type
- CCDC148 p.Glu522Lys Benign ★★ same type
- CCDC148 p.Tyr307Phe Benign ★★ same type
- CCDC148 p.Ala135Thr Uncertain significance ★ ⚠ same type
- CCDC148 p.Ala42Pro Uncertain significance ★ ⚠ same type
- CCDC148 p.Ala448Ser Uncertain significance ★ ⚠ same type
- CCDC148 p.Ala448Thr Uncertain significance ★ ⚠ same type
- CCDC148 p.Ala46Val 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/ccdc148-p-glu387 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown