Y83H (p.Tyr83His) variant of PCDH15 (Protocadherin-15)
Y83H (p.Tyr83His) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
Y83H (p.Tyr83His) variant details
- p.Tyr83His
- ExAC rs764069359
- gnomAD rs764069359
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- MetaLR 0.21
- MetaSVM -0.81
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)