R9L (p.Arg9Leu) variant of CLCN1 (Chloride channel protein 1)
R9L (p.Arg9Leu) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD 7-143316238-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.22
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available