A13D (p.Ala13Asp) variant of PCDH19 (Protocadherin-19)
A13D (p.Ala13Asp) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD rs1416649514
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.18
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.22
- Population evidence available
- Structural context available