W8R (p.Trp8Arg) variant of PCDH15 (Protocadherin-15)
W8R (p.Trp8Arg) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- gnomAD rs1490277261
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- MetaLR 0.39
- MetaSVM -0.52
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)