A23V (p.Ala23Val) variant of F13A1 (Coagulation factor XIII A chain)
A23V (p.Ala23Val) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F13A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs763103004
- NCI-TCGA Cosmic COSV5356
- ExAC rs763103004
- TOPMed rs763103004
- Uncertain significance
- F13A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.15
- MetaLR 0.02
- MetaSVM -0.97
- CADD 4.77
- PolyPhen-2 0.10
- SIFT 0.15
- ClinVar: Uncertain significance (F13A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available