R115H (p.Arg115His) variant of F13B (Coagulation factor XIII B chain)
R115H (p.Arg115His) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Factor XIII, b subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R115H (p.Arg115His) variant details
- p.Arg115His
- rs6003
- ClinGen CA210740
- ClinVar RCV000017984
- ClinVar RCV000253350
- Benign
- not specified; not provided; Factor XIII, b subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.0478
- REVEL 0.04
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Benign (not specified; not provided; Factor XIII, b subunit, deficiency)
- EBI: Benign (in dbSNP:rs6003)
- UniProt: Benign (in dbSNP:rs6003)
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial… (PMID 12456499)