PKDCC p.Pro77=
c.231C>T · VCV3698116
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0209%, eas)
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 0.067 | GERP -0.93, phastCons 0.76 |
| Overall | ||
| CADD | 10.43 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0209%
East Asian · 4/19,184 alleles
Filtering AF
0.00705%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00426%
Overall
0.000451%
5/1,108,806 alleles · ultra-rare
exomes 4/963,400 · genomes 1/145,406 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0209% | 4,796 |
| European (non-Finnish) | 0.000109% | 913,334 |
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
- PKDCC
- Protein
- p.Pro77=
- Coding
- c.231C>T
- MANE Select
- NM_138370
- Type
- single nucleotide variant
- Location
- chr2:42048430 (GRCh38)
- Gene constraint
- LOEUF 1.15 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.96
- Residue 77
- the 'disordered' region
Similar variants
- PKDCC p.Pro77fs Likely pathogenic ★ same residue
- PKDCC p.Leu262Arg Pathogenic/Likely pathogenic ★★ same type
- PKDCC c.640-12G>A Uncertain significance ★★ same type
- PKDCC p.Ala299Thr Uncertain significance ★★ ⚠ same type
- PKDCC p.Arg280Cys Uncertain significance ★★ ⚠ same type
- PKDCC p.Arg338Gln Uncertain significance ★★ ⚠ same type
- PKDCC p.Arg393Gln Uncertain significance ★★ ⚠ same type
- PKDCC p.Asp295Glu 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/pkdcc-p-pro77 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown