I15V (p.Ile15Val) variant of PCDH15 (Protocadherin-15)
I15V (p.Ile15Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- TOPMed rs1432539502
- gnomAD rs1432539502
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- MetaLR 0.15
- MetaSVM -0.93
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)