V105I (p.Val105Ile) variant of F13A1 (Coagulation factor XIII A chain)
V105I (p.Val105Ile) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V105I (p.Val105Ile) variant details
- p.Val105Ile
- gnomAD rs868565007
- Uncertain significance
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.31
- MetaLR 0.46
- MetaSVM -0.20
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.28
- ClinVar: Uncertain significance (Factor XIII, A subunit, deficiency of)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available