R78L (p.Arg78Leu) variant of F13A1 (Coagulation factor XIII A chain)
R78L (p.Arg78Leu) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- rs768024997
- ClinGen CA362742174
- NCI-TCGA Cosmic COSV5355
- Conflicting interpretations
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Factor XIII, A subunit, deficiency of)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available