R51G (p.Arg51Gly) variant of PCDH15 (Protocadherin-15)
R51G (p.Arg51Gly) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- cosmic curated COSV10021
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.13
- MetaSVM -1.04
- CADD 23.60
- PolyPhen-2 0.51
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)