A430T (p.Ala430Thr) variant of F11 (Coagulation factor XI)
A430T (p.Ala430Thr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.83 / 1. The record also includes population frequency data and structural context.
A430T (p.Ala430Thr) variant details
- p.Ala430Thr
- rs753909969
- ClinGen CA3163944
- ClinVar RCV000383804
- ClinVar RCV000851679
- Pathogenic/Likely pathogenic
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.59
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor XI deficiency disease; Plasma factor XI defici)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available