M77R (p.Met77Arg) variant of H6PD (O95479)
M77R (p.Met77Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M77R (p.Met77Arg) variant details
- p.Met77Arg
- gnomAD 1-9245164-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.53
- MetaLR 0.80
- MetaSVM 0.64
- CADD 26.10
- PolyPhen-2 0.57
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available