D30E (p.Asp30Glu) variant of PCDH15 (Protocadherin-15)
D30E (p.Asp30Glu) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- cosmic curated COSV57266
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- MetaLR 0.09
- MetaSVM -1.04
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)