G51S (p.Gly51Ser) variant of HFE (Q30201)
G51S (p.Gly51Ser) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- gnomAD rs1183193280
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.33
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available