M25I (p.Met25Ile) variant of CLCN1 (Chloride channel protein 1)
M25I (p.Met25Ile) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M25I (p.Met25Ile) variant details
- p.Met25Ile
- gnomAD 7-143316287-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.13
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available