Y28H (p.Tyr28His) variant of PCDH15 (Protocadherin-15)
Y28H (p.Tyr28His) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- gnomAD rs1188054474
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- MetaLR 0.12
- MetaSVM -1.03
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)