S76Y (p.Ser76Tyr) variant of PCDH15 (Protocadherin-15)
S76Y (p.Ser76Tyr) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
S76Y (p.Ser76Tyr) variant details
- p.Ser76Tyr
- NCI-TCGA Cosmic COSV5727
- cosmic curated COSV57278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.27
- MetaSVM -0.53
- CADD 27.00
- PolyPhen-2 0.93
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)