L42P (p.Leu42Pro) variant of CLCN1 (Chloride channel protein 1)
L42P (p.Leu42Pro) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- gnomAD 7-143316337-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.20
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available