A130V (p.Ala130Val) variant of F11 (Coagulation factor XI)
A130V (p.Ala130Val) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- TOPMed rs1292403408
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.82
- CADD 0.46
- Structural context available