P52L (p.Pro52Leu) variant of CLCN1 (Chloride channel protein 1)
P52L (p.Pro52Leu) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD rs1244607320
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.09
- CADD 7.63
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available