M77I (p.Met77Ile) variant of H6PD (O95479)
M77I (p.Met77Ile) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M77I (p.Met77Ile) variant details
- p.Met77Ile
- ExAC rs757374323
- TOPMed rs757374323
- gnomAD rs757374323
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- MetaLR 0.72
- MetaSVM 0.04
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available