H31Y (p.His31Tyr) variant of HFE (Q30201)
H31Y (p.His31Tyr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- gnomAD 6-26090855-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.08
- MetaLR 0.00
- MetaSVM -0.85
- CADD 13.90
- PolyPhen-2 0.39
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available