D44V (p.Asp44Val) variant of CLCN5 (P51795)
D44V (p.Asp44Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D44V (p.Asp44Val) variant details
- p.Asp44Val
- gnomAD X-50042430-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.53
- MetaLR 0.74
- MetaSVM 0.43
- CADD 25.30
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available