Q23K (p.Gln23Lys) variant of CLCN1 (Chloride channel protein 1)
Q23K (p.Gln23Lys) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- gnomAD 7-143316279-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.39
- CADD 19.40
- PolyPhen-2 0.13
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available