A66V (p.Ala66Val) variant of PCDH15 (Protocadherin-15)
A66V (p.Ala66Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- ExAC rs748690741
- gnomAD rs748690741
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- MetaLR 0.29
- MetaSVM -0.51
- CADD 26.90
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)