H122D (p.His122Asp) variant of CHM (P24386)
H122D (p.His122Asp) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H122D (p.His122Asp) variant details
- p.His122Asp
- gnomAD rs1311851637
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.05
- CADD 17.20
- PolyPhen-2 0.02
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available