Q33R (p.Gln33Arg) variant of PCDH19 (Protocadherin-19)
Q33R (p.Gln33Arg) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD rs1229227215
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.15
- CADD 20.10
- PolyPhen-2 0.22
- SIFT 0.71
- Population evidence available
- Structural context available