G68R (p.Gly68Arg) variant of PCDH15 (Protocadherin-15)
G68R (p.Gly68Arg) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- cosmic curated COSV57273
- gnomAD rs1419689183
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- MetaLR 0.33
- MetaSVM -0.35
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)