D94Y (p.Asp94Tyr) variant of F13A1 (Coagulation factor XIII A chain)
D94Y (p.Asp94Tyr) 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 0.32 / 1. The record also includes population frequency data and structural context.
D94Y (p.Asp94Tyr) variant details
- p.Asp94Tyr
- rs1203791516
- NCI-TCGA Cosmic COSV5356
- TOPMed rs1203791516
- gnomAD rs1203791516
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.47
- MetaLR 0.07
- MetaSVM -0.99
- CADD 13.60
- PolyPhen-2 0.06
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available