M88L (p.Met88Leu) variant of F8 (Coagulation factor VIII)
M88L (p.Met88Leu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
M88L (p.Met88Leu) variant details
- p.Met88Leu
- ExAC rs782731044
- TOPMed rs782731044
- gnomAD rs782731044
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.64
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.12
- CADD 22.80
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available