L13H (p.Leu13His) variant of F7 (Coagulation factor VII)
L13H (p.Leu13His) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L13H (p.Leu13His) variant details
- p.Leu13His
- rs387906507
- gnomAD 13-113105879-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.38
- MetaLR 0.71
- MetaSVM -0.09
- CADD 24.30
- PolyPhen-2 0.86
- SIFT 0.07
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with… (PMID 9576180)