P26T (p.Pro26Thr) variant of CLCN1 (Chloride channel protein 1)
P26T (p.Pro26Thr) in CLCN1 (Chloride channel protein 1) 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 0.44 / 1. The record also includes population frequency data and structural context.
P26T (p.Pro26Thr) variant details
- p.Pro26Thr
- rs775412383
- NCI-TCGA Cosmic COSV1005
- ExAC rs775412383
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.45
- CADD 15.30
- PolyPhen-2 0.06
- SIFT 0.54
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available