R8H (p.Arg8His) variant of CHAMP1 (Q96JM3)
R8H (p.Arg8His) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- TOPMed rs2087202927
- gnomAD rs2087202927
- Missense
- Variant Prioritization Score for Impact Estimate 0.0976
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.91
- CADD 8.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available