I73V (p.Ile73Val) variant of PCDH15 (Protocadherin-15)
I73V (p.Ile73Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- ExAC rs779565753
- TOPMed rs779565753
- gnomAD rs779565753
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.32
- MetaSVM -0.52
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)