H31R (p.His31Arg) variant of HFE (Q30201)
H31R (p.His31Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H31R (p.His31Arg) variant details
- p.His31Arg
- gnomAD 6-26090856-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.15
- MetaLR 0.00
- MetaSVM -1.03
- CADD 3.98
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available