A5V (p.Ala5Val) variant of HFE (Q30201)
A5V (p.Ala5Val) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1404018362
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available