A2V (p.Ala2Val) variant of CLCN5 (P51795)
A2V (p.Ala2Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD X-49925303-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.41
- MetaLR 0.70
- MetaSVM 0.47
- CADD 24.70
- PolyPhen-2 0.68
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available