P66L (p.Pro66Leu) variant of F11 (Coagulation factor XI)
P66L (p.Pro66Leu) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs5968
- UniProt VAR 011774
- ESP rs5968
- ExAC rs5968
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.60
- MetaSVM -0.30
- CADD 7.86
- Population evidence available
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)