A430V (p.Ala430Val) variant of F11 (Coagulation factor XI)
A430V (p.Ala430Val) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A430V (p.Ala430Val) variant details
- p.Ala430Val
- rs121965068
- ClinGen CA121759
- ClinVar RCV000012674
- ClinVar RCV004700220
- Uncertain significance
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.81
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Heterozygous factor XI deficiency associated with three novel mutations. (PMID 10606881)
- Cited in: Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define… (PMID 15953011)