A2T (p.Ala2Thr) variant of CLCN5 (P51795)
A2T (p.Ala2Thr) in CLCN5 (P51795) 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 0.55 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs868953478
- Ensembl rs868953478
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.41
- MetaLR 0.70
- MetaSVM 0.47
- CADD 25.10
- PolyPhen-2 0.68
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available