S24I (p.Ser24Ile) variant of CLCN5 (P51795)
S24I (p.Ser24Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- gnomAD X-50042370-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- MetaLR 0.63
- MetaSVM 0.25
- CADD 23.90
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available