D58Y (p.Asp58Tyr) variant of PCDH15 (Protocadherin-15)
D58Y (p.Asp58Tyr) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
D58Y (p.Asp58Tyr) variant details
- p.Asp58Tyr
- TOPMed rs1948832552
- gnomAD rs1948832552
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- MetaLR 0.27
- MetaSVM -0.67
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)