P70S (p.Pro70Ser) variant of HFE (Q30201)
P70S (p.Pro70Ser) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- gnomAD 6-26090972-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.12
- MetaLR 0.46
- MetaSVM -0.32
- CADD 6.26
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available