D44G (p.Asp44Gly) variant of CLCN5 (P51795)
D44G (p.Asp44Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- TOPMed rs1932257261
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.43
- MetaLR 0.65
- MetaSVM 0.16
- CADD 23.40
- PolyPhen-2 0.52
- SIFT 0.10
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.056)
- Structural context available