D69G (p.Asp69Gly) variant of F11 (Coagulation factor XI)
D69G (p.Asp69Gly) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D69G (p.Asp69Gly) variant details
- p.Asp69Gly
- rs1002456131
- ClinGen CA112149165
- cosmic curated COSV53009
- ClinVar RCV002283296
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.17
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 0.63
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)