M13T (p.Met13Thr) variant of HFE (Q30201)
M13T (p.Met13Thr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M13T (p.Met13Thr) variant details
- p.Met13Thr
- gnomAD 6-26087478-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.05
- MetaLR 0.20
- MetaSVM -0.81
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available