V77A (p.Val77Ala) variant of F11 (Coagulation factor XI)
V77A (p.Val77Ala) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V77A (p.Val77Ala) variant details
- p.Val77Ala
- rs1433941674
- ClinGen CA358958171
- ClinVar RCV001420443
- gnomAD rs1433941674
- Uncertain significance
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.19
- MetaLR 0.55
- MetaSVM -0.20
- PolyPhen-2 0.54
- SIFT 0.01
- EVE 0.09
- ClinVar: Uncertain significance (Hereditary factor XI deficiency disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available