Y6C (p.Tyr6Cys) variant of PCDH15 (Protocadherin-15)
Y6C (p.Tyr6Cys) 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 0.12 / 1. The record also includes population frequency data.
Y6C (p.Tyr6Cys) variant details
- p.Tyr6Cys
- rs751253853
- ClinGen CA376542016
- cosmic curated COSV10021
- ClinVar RCV001241457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- MetaLR 0.05
- MetaSVM -1.04
- CADD 2.87
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)