I33V (p.Ile33Val) variant of CLCN5 (P51795)
I33V (p.Ile33Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- Ensembl rs1932255011
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.40
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available