P20R (p.Pro20Arg) variant of CLCN1 (Chloride channel protein 1)
P20R (p.Pro20Arg) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- ExAC rs773346609
- gnomAD rs773346609
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.43
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available