R5G (p.Arg5Gly) variant of F2 (Prothrombin)
R5G (p.Arg5Gly) in F2 (Prothrombin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs775021214
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- ExAC rs775021214
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available