G2S (p.Gly2Ser) variant of HFE (Q30201)
G2S (p.Gly2Ser) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- cosmic curated COSV10642
- ExAC rs774304096
- gnomAD rs774304096
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.03
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available