Q40K (p.Gln40Lys) variant of HFE (Q30201)
Q40K (p.Gln40Lys) 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, published literature, and structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- gnomAD 6-26090882-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- MetaLR 0.23
- MetaSVM -0.75
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available