S26I (p.Ser26Ile) variant of CLCN5 (P51795)
S26I (p.Ser26Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S26I (p.Ser26Ile) variant details
- p.Ser26Ile
- gnomAD X-50042376-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.52
- MetaLR 0.84
- MetaSVM 0.85
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available