I33M (p.Ile33Met) variant of CLCN5 (P51795)
I33M (p.Ile33Met) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- gnomAD X-50042398-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.42
- MetaLR 0.58
- MetaSVM -0.17
- CADD 16.00
- PolyPhen-2 0.53
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available