M8I (p.Met8Ile) variant of CLCN5 (P51795)
M8I (p.Met8Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- cosmic curated COSV65803
- cosmic curated COSV10592
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.50
- MetaLR 0.73
- MetaSVM 0.42
- CADD 24.50
- PolyPhen-2 0.58
- SIFT 0.00
- Population evidence available
- Structural context available