R146L (p.Arg146Leu) variant of F5 (Coagulation factor V)
R146L (p.Arg146Leu) in F5 (Coagulation factor V) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R146L (p.Arg146Leu) variant details
- p.Arg146Leu
- cosmic curated COSV63126
- ESP rs145625079
- ExAC rs145625079
- TOPMed rs145625079
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.32
- CADD 15.10
- PolyPhen-2 0.11
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available