V35L (p.Val35Leu) variant of F13A1 (Coagulation factor XIII A chain)
V35L (p.Val35Leu) 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 not specified; not provided; Myocardial infarction, protection against. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- rs5985
- ClinGen CA126636
- ClinVar RCV000017996
- ClinVar RCV000017997
- Conflicting interpretations
- not specified; not provided; Myocardial infarction, protection against
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -1.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Myocardial infarction, protection a)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.58)
- Structural context available
- Cited in: Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. (PMID 10365735)
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)