A66S (p.Ala66Ser) variant of PCDH15 (Protocadherin-15)
A66S (p.Ala66Ser) 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 0.62 / 1. The record also includes population frequency data.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- NCI-TCGA Cosmic COSV5728
- cosmic curated COSV57280
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- MetaLR 0.30
- MetaSVM -0.56
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)