C10Y (p.Cys10Tyr) variant of PCDH15 (Protocadherin-15)
C10Y (p.Cys10Tyr) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- rs368180234
- ClinGen CA5506907
- ClinVar RCV002664363
- ESP rs368180234
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- MetaLR 0.19
- MetaSVM -0.90
- CADD 7.05
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)