S120G (p.Ser120Gly) variant of F5 (Coagulation factor V)
S120G (p.Ser120Gly) 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 Factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S120G (p.Ser120Gly) variant details
- p.Ser120Gly
- rs1571598694
- ClinGen CA343141901
- ClinVar RCV000851645
- Ensembl rs1571598694
- Uncertain significance
- Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.54
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.40
- ClinVar: Uncertain significance (Factor V deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)
- Cited in: Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A)… (PMID 21150787)