G51D (p.Gly51Asp) variant of HFE (Q30201)
G51D (p.Gly51Asp) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- gnomAD 6-26090916-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.39
- MetaLR 0.03
- MetaSVM -1.14
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available