M77L (p.Met77Leu) variant of H6PD (O95479)
M77L (p.Met77Leu) in H6PD (O95479) 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, published literature, and structural context.
M77L (p.Met77Leu) variant details
- p.Met77Leu
- gnomAD 1-9245163-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.34
- MetaLR 0.68
- MetaSVM -0.08
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available