L13P (p.Leu13Pro) variant of F7 (Coagulation factor VII)
L13P (p.Leu13Pro) in F7 (Coagulation factor VII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FA7D. 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs387906507
- ClinGen CA121846
- ClinVar RCV000012856
- UniProt VAR 014391
- Pathogenic
- in FA7D
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.54
- MetaLR 0.57
- MetaSVM -0.41
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Most common in the East Asian population (allele frequency 0.00013)
- 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)
- Cited in: Twenty two novel mutations of the factor VII gene in factor VII deficiency. (PMID 10862079)