P44L (p.Pro44Leu) variant of F8 (Coagulation factor VIII)
P44L (p.Pro44Leu) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- Ensembl rs2073764449
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.53
- MetaLR 0.72
- MetaSVM 0.07
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available