S19G (p.Ser19Gly) variant of CLCN5 (P51795)
S19G (p.Ser19Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- gnomAD X-50042354-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.27
- MetaLR 0.49
- MetaSVM -0.45
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available