T31S (p.Thr31Ser) variant of CLCN1 (Chloride channel protein 1)
T31S (p.Thr31Ser) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T31S (p.Thr31Ser) variant details
- p.Thr31Ser
- gnomAD 7-143316304-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available