R142Q (p.Arg142Gln) variant of F12 (Coagulation factor XII)
R142Q (p.Arg142Gln) in F12 (Coagulation factor XII) 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 0.09 / 1. The record also includes population frequency data and structural context.
R142Q (p.Arg142Gln) variant details
- p.Arg142Gln
- rs764800976
- ClinGen CA3581485
- ClinVar RCV003718078
- ExAC rs764800976
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0895
- REVEL 0.04
- CADD 10.90
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in FA12D)
- UniProt: Uncertain significance (in FA12D)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available