S19I (p.Ser19Ile) variant of CLCN5 (P51795)
S19I (p.Ser19Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- ExAC rs781788759
- gnomAD rs781788759
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.13
- MetaLR 0.46
- MetaSVM -0.46
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available