A49V (p.Ala49Val) variant of HFE (Q30201)
A49V (p.Ala49Val) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD 6-26090910-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.31
- MetaLR 0.48
- MetaSVM -0.19
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available