L7I (p.Leu7Ile) variant of F10 (Coagulation factor X)
L7I (p.Leu7Ile) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- rs5963
- UniProt VAR 014162
- ESP rs5963
- ExAC rs5963
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.57
- CADD 19.00
- PolyPhen-2 0.70
- SIFT 0.10
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)