I55V (p.Ile55Val) variant of PCDH15 (Protocadherin-15)
I55V (p.Ile55Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- ExAC rs762938008
- gnomAD rs762938008
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.21
- MetaSVM -0.86
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00017)