S42I (p.Ser42Ile) variant of F5 (Coagulation factor V)
S42I (p.Ser42Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S42I (p.Ser42Ile) variant details
- p.Ser42Ile
- ExAC rs768376936
- TOPMed rs768376936
- gnomAD rs768376936
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.34
- CADD 8.38
- PolyPhen-2 0.17
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available