Q21R (p.Gln21Arg) variant of CLCN1 (Chloride channel protein 1)
Q21R (p.Gln21Arg) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- gnomAD 7-143316274-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available