V36A (p.Val36Ala) variant of F13A1 (Coagulation factor XIII A chain)
V36A (p.Val36Ala) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- rs752589234
- ClinGen CA362740535
- ClinVar RCV003256599
- ExAC rs752589234
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.85
- CADD 9.18
- PolyPhen-2 0.03
- SIFT 0.71
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)