D79Y (p.Asp79Tyr) variant of PCDH15 (Protocadherin-15)
D79Y (p.Asp79Tyr) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
D79Y (p.Asp79Tyr) variant details
- p.Asp79Tyr
- ExAC rs778506607
- TOPMed rs778506607
- gnomAD rs778506607
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- MetaLR 0.35
- MetaSVM -0.38
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)