A7S (p.Ala7Ser) variant of CLCN5 (P51795)
A7S (p.Ala7Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD X-50042318-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.20
- MetaLR 0.51
- MetaSVM -0.24
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available