V36M (p.Val36Met) variant of F5 (Coagulation factor V)
V36M (p.Val36Met) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- rs147487854
- ClinGen CA1234738
- ClinVar RCV002409128
- ClinVar RCV003596638
- Conflicting interpretations
- Inborn genetic diseases; Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.67
- AlphaMissense 0.38
- MetaLR 0.24
- MetaSVM -0.66
- CADD 22.90
- PolyPhen-2 0.97
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Congenital factor V deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)