R23C (p.Arg23Cys) variant of HFE (Q30201)
R23C (p.Arg23Cys) in HFE (Q30201) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- rs761203501
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10035
- ExAC rs761203501
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.12
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available