R36K (p.Arg36Lys) variant of PCDH15 (Protocadherin-15)
R36K (p.Arg36Lys) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
R36K (p.Arg36Lys) variant details
- p.Arg36Lys
- gnomAD rs1218177692
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- MetaLR 0.19
- MetaSVM -0.76
- CADD 23.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)