A43T (p.Ala43Thr) variant of PCDH19 (Protocadherin-19)
A43T (p.Ala43Thr) 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 0.34 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- NCI-TCGA Cosmic COSV5526
- cosmic curated COSV55262
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.12
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available