A2G (p.Ala2Gly) variant of CHM (P24386)
A2G (p.Ala2Gly) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- TOPMed rs1185313651
- gnomAD rs1185313651
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- MetaLR 0.82
- MetaSVM 0.78
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available