M9T (p.Met9Thr) variant of H6PD (O95479)
M9T (p.Met9Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- ExAC rs763666648
- TOPMed rs763666648
- gnomAD rs763666648
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.34
- MetaLR 0.84
- MetaSVM 0.33
- CADD 6.59
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available