S20I (p.Ser20Ile) variant of CLCN5 (P51795)
S20I (p.Ser20Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- gnomAD rs960373474
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- MetaLR 0.83
- MetaSVM 0.80
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available