G51V (p.Gly51Val) variant of F10 (Coagulation factor X)
G51V (p.Gly51Val) in F10 (Coagulation factor X) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FA10D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- rs751782758
- UniProt VAR 065429
- ExAC rs751782758
- gnomAD rs751782758
- Pathogenic
- in FA10D
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.96
- AlphaMissense 0.42
- MetaLR 1.00
- MetaSVM 0.89
- CADD 24.70
- PolyPhen-2 1.00
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Population evidence available
- Structural context available
- Cited in: Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X. (PMID 19135706)
- Cited in: A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). (PMID 10468877)