R27H (p.Arg27His) variant of F10 (Coagulation factor X)
R27H (p.Arg27His) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs1263735827
- ClinGen CA388787413
- NCI-TCGA Cosmic COSV6502
- Uncertain significance
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.34
- CADD 0.50
- PolyPhen-2 0.34
- SIFT 0.08
- ClinVar: Uncertain significance (Factor X deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available