T17A (p.Thr17Ala) variant of HFE (Q30201)
T17A (p.Thr17Ala) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- gnomAD 6-26087489-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.01
- MetaLR 0.26
- MetaSVM -0.59
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available