K33R (p.Lys33Arg) variant of PCDH15 (Protocadherin-15)
K33R (p.Lys33Arg) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- ExAC rs780988212
- gnomAD rs780988212
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- MetaLR 0.30
- MetaSVM -0.46
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)