A49V (p.Ala49Val) variant of PCDH19 (Protocadherin-19)
A49V (p.Ala49Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.80
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available