M13K (p.Met13Lys) variant of HFE (Q30201)
M13K (p.Met13Lys) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M13K (p.Met13Lys) variant details
- p.Met13Lys
- TOPMed rs1225546896
- gnomAD rs1225546896
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.09
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available