D9V (p.Asp9Val) variant of CLCN5 (P51795)
D9V (p.Asp9Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D9V (p.Asp9Val) variant details
- p.Asp9Val
- gnomAD X-50042325-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.52
- MetaLR 0.60
- MetaSVM 0.25
- CADD 23.80
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available