R23L (p.Arg23Leu) variant of HFE (Q30201)
R23L (p.Arg23Leu) 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 0.14 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- rs148161858
- ClinVar RCV004592185
- 1000Genomes rs148161858
- ESP rs148161858
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available