Q40P (p.Gln40Pro) variant of HFE (Q30201)
Q40P (p.Gln40Pro) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- gnomAD 6-26090883-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -0.88
- CADD 5.52
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available