H18R (p.His18Arg) variant of CHAMP1 (Q96JM3)
H18R (p.His18Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H18R (p.His18Arg) variant details
- p.His18Arg
- ExAC rs782665511
- gnomAD rs782665511
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.00
- MetaSVM -0.46
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available