G38R (p.Gly38Arg) variant of PCDH15 (Protocadherin-15)
G38R (p.Gly38Arg) 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.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- 1000Genomes rs188810322
- ExAC rs188810322
- gnomAD rs188810322
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- MetaLR 0.41
- MetaSVM -0.24
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)