A35T (p.Ala35Thr) variant of PCDH19 (Protocadherin-19)
A35T (p.Ala35Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- NCI-TCGA Cosmic COSV5526
- cosmic curated COSV55262
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.81
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available