A37T (p.Ala37Thr) variant of HFE (Q30201)
A37T (p.Ala37Thr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- gnomAD 6-26090873-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.13
- MetaLR 0.00
- MetaSVM -0.96
- CADD 16.60
- PolyPhen-2 0.14
- SIFT 0.18
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available