C10R (p.Cys10Arg) variant of PCDH15 (Protocadherin-15)
C10R (p.Cys10Arg) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- ExAC rs757380468
- gnomAD rs757380468
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- MetaLR 0.19
- MetaSVM -0.93
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)