D39G (p.Asp39Gly) variant of CLCN5 (P51795)
D39G (p.Asp39Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D39G (p.Asp39Gly) variant details
- p.Asp39Gly
- 1000Genomes rs782364195
- ExAC rs782364195
- gnomAD rs782364195
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.52
- MetaLR 0.80
- MetaSVM 0.60
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.0075)
- Structural context available