R72Q (p.Arg72Gln) variant of F11 (Coagulation factor XI)
R72Q (p.Arg72Gln) in F11 (Coagulation factor XI) 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 0.30 / 1. The record also includes population frequency data and structural context.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- rs567451638
- cosmic curated COSV10510
- 1000Genomes rs567451638
- ExAC rs567451638
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM -0.12
- CADD 11.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available