D27G (p.Asp27Gly) variant of CLCN5 (P51795)
D27G (p.Asp27Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D27G (p.Asp27Gly) variant details
- p.Asp27Gly
- TOPMed rs1487310174
- gnomAD rs1487310174
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.59
- MetaLR 0.81
- MetaSVM 0.66
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00025)
- Structural context available