M25T (p.Met25Thr) variant of CLCN1 (Chloride channel protein 1)
M25T (p.Met25Thr) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M25T (p.Met25Thr) variant details
- p.Met25Thr
- ExAC rs766386297
- gnomAD rs766386297
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available