L30M (p.Leu30Met) variant of HFE (Q30201)
L30M (p.Leu30Met) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- rs760685317
- ClinGen CA363203858
- ClinVar RCV001528692
- ExAC rs760685317
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.26
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available