P3R (p.Pro3Arg) variant of HFE (Q30201)
P3R (p.Pro3Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- gnomAD 6-26087448-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.02
- MetaLR 0.50
- MetaSVM -0.47
- CADD 19.90
- PolyPhen-2 0.81
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available