M38I (p.Met38Ile) variant of CLCN5 (P51795)
M38I (p.Met38Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- gnomAD X-50042413-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.31
- MetaLR 0.52
- MetaSVM -0.24
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available