V51I (p.Val51Ile) variant of F13A1 (Coagulation factor XIII A chain)
V51I (p.Val51Ile) in F13A1 (Coagulation factor XIII A chain) 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 0.24 / 1. The record also includes population frequency data and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- rs750361933
- ExAC rs750361933
- TOPMed rs750361933
- gnomAD rs750361933
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.81
- CADD 0.69
- PolyPhen-2 0.01
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available