Y150C (p.Tyr150Cys) variant of F5 (Coagulation factor V)
Y150C (p.Tyr150Cys) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y150C (p.Tyr150Cys) variant details
- p.Tyr150Cys
- gnomAD rs1295008658
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.95
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -0.99
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available