L20P (p.Leu20Pro) variant of HFE (Q30201)
L20P (p.Leu20Pro) 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.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- gnomAD 6-26087499-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- MetaLR 0.29
- MetaSVM -0.67
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available