Y148C (p.Tyr148Cys) variant of F5 (Coagulation factor V)
Y148C (p.Tyr148Cys) in F5 (Coagulation factor V) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y148C (p.Tyr148Cys) variant details
- p.Tyr148Cys
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63124
- TOPMed rs1660456465
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.73
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available