R40W (p.Arg40Trp) variant of F2 (Prothrombin)
R40W (p.Arg40Trp) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs1013222460
- ClinGen CA221647167
- ClinVar RCV003147152
- ClinVar RCV003992747
- Conflicting interpretations
- not provided; Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.85
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital prothrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available