R11I (p.Arg11Ile) variant of CLCN5 (P51795)
R11I (p.Arg11Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R11I (p.Arg11Ile) variant details
- p.Arg11Ile
- gnomAD X-50042331-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.17
- MetaLR 0.46
- MetaSVM -0.42
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available