R346C (p.Arg346Cys) variant of F10 (Coagulation factor X)
R346C (p.Arg346Cys) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R346C (p.Arg346Cys) variant details
- p.Arg346Cys
- rs755110383
- ClinGen CA7060670
- NCI-TCGA Cosmic COSV6502
- ClinVar RCV003313867
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- CADD 23.20
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available