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 0.41 / 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 0.406
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.48
- PolyPhen-2 0.00
- SIFT 0.17
- EVE 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available