M35T (p.Met35Thr) variant of HFE (Q30201)
M35T (p.Met35Thr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M35T (p.Met35Thr) variant details
- p.Met35Thr
- TOPMed rs2242956
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.25
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.45
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available