E22D (p.Glu22Asp) variant of PCDH15 (Protocadherin-15)
E22D (p.Glu22Asp) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- TOPMed rs1344434931
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- MetaLR 0.07
- MetaSVM -1.01
- CADD 7.63
- PolyPhen-2 0.03
- SIFT 0.39
- Most common in the East Asian population (allele frequency 2.5e-05)