D30V (p.Asp30Val) variant of PCDH15 (Protocadherin-15)
D30V (p.Asp30Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- cosmic curated COSV10520
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- MetaLR 0.29
- MetaSVM -0.53
- CADD 25.20
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)