L46P (p.Leu46Pro) variant of CLCN1 (Chloride channel protein 1)
L46P (p.Leu46Pro) 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 and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- Ensembl rs1802291843
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.17
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available