M31I (p.Met31Ile) variant of CLCN5 (P51795)
M31I (p.Met31Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M31I (p.Met31Ile) variant details
- p.Met31Ile
- gnomAD X-50042392-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.27
- MetaLR 0.43
- MetaSVM -0.45
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available