W84C (p.Trp84Cys) variant of PCDH15 (Protocadherin-15)
W84C (p.Trp84Cys) 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.
W84C (p.Trp84Cys) variant details
- p.Trp84Cys
- cosmic curated COSV57336
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- MetaLR 0.35
- MetaSVM -0.45
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)