C30R (p.Cys30Arg) variant of CLCN1 (Chloride channel protein 1)
C30R (p.Cys30Arg) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
C30R (p.Cys30Arg) variant details
- p.Cys30Arg
- ExAC rs751290706
- gnomAD rs751290706
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.73
- CADD 22.20
- PolyPhen-2 0.33
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available