L14V (p.Leu14Val) variant of HFE (Q30201)
L14V (p.Leu14Val) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary hemochromatosis; not provided; Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs201657128
- ClinGen CA3666562
- ClinVar RCV001157771
- ClinVar RCV001247202
- Uncertain significance
- Hereditary hemochromatosis; not provided; Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.03
- CADD 13.00
- PolyPhen-2 0.14
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary hemochromatosis; not provided; Hemochromatosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)