P26S (p.Pro26Ser) variant of CLCN1 (Chloride channel protein 1)
P26S (p.Pro26Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs775412383
- NCI-TCGA Cosmic COSV1005
- ExAC rs775412383
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.84
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available