M73R (p.Met73Arg) variant of CHAMP1 (Q96JM3)
M73R (p.Met73Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M73R (p.Met73Arg) variant details
- p.Met73Arg
- gnomAD 13-114324060-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.22
- MetaSVM -0.64
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available