Q6R (p.Gln6Arg) variant of F11 (Coagulation factor XI)
Q6R (p.Gln6Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q6R (p.Gln6Arg) variant details
- p.Gln6Arg
- rs771485861
- ClinGen CA3163536
- ClinVar RCV003442424
- ExAC rs771485861
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.07
- MetaLR 0.72
- MetaSVM -0.08
- PolyPhen-2 0.00
- SIFT 0.14
- MutPred 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available