A54V (p.Ala54Val) variant of VWF (von Willebrand factor)
A54V (p.Ala54Val) in VWF (von Willebrand factor) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs200901782
- ClinGen CA6403881
- ClinVar RCV003443562
- ClinVar RCV005515562
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -0.96
- CADD 17.10
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)