L30M (p.Leu30Met) variant of CLCN5 (P51795)
L30M (p.Leu30Met) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- cosmic curated COSV10106
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.77
- CADD 1.39
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available