H63P (p.His63Pro) variant of HFE (Q30201)
H63P (p.His63Pro) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H63P (p.His63Pro) variant details
- p.His63Pro
- gnomAD 6-26090952-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- MetaLR 0.63
- MetaSVM -0.19
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available