D34H (p.Asp34His) variant of F11 (Coagulation factor XI)
D34H (p.Asp34His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D34H (p.Asp34His) variant details
- p.Asp34His
- rs281875267
- ClinGen CA219094
- ClinVar RCV000059001
- UniProt VAR 012085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.40
- MetaLR 0.84
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Six point mutations that cause factor XI deficiency. (PMID 7888672)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)