V36G (p.Val36Gly) variant of F13A1 (Coagulation factor XIII A chain)
V36G (p.Val36Gly) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V36G (p.Val36Gly) variant details
- p.Val36Gly
- ExAC rs752589234
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.29
- MetaLR 0.25
- MetaSVM -0.84
- CADD 12.90
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available