R108H (p.Arg108His) variant of F13A1 (Coagulation factor XIII A chain)
R108H (p.Arg108His) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R108H (p.Arg108His) variant details
- p.Arg108His
- rs145761347
- ClinGen CA3624687
- ClinVar RCV002666344
- ESP rs145761347
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.38
- MetaLR 0.53
- MetaSVM 0.08
- CADD 22.10
- PolyPhen-2 0.26
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)