L85R (p.Leu85Arg) variant of F5 (Coagulation factor V)
L85R (p.Leu85Arg) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; F5-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L85R (p.Leu85Arg) variant details
- p.Leu85Arg
- rs146656273
- ClinGen CA32405805
- ClinVar RCV003239471
- ClinVar RCV003395733
- Uncertain significance
- Inborn genetic diseases; F5-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.96
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; F5-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)