A24G (p.Ala24Gly) variant of CHM (P24386)
A24G (p.Ala24Gly) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- gnomAD rs1321285427
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.83
- MetaLR 0.79
- MetaSVM 0.70
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available