A31S (p.Ala31Ser) variant of VCP (P55072)
A31S (p.Ala31Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- rs1828872997
- ClinGen CA373294992
- ClinVar RCV001768751
- ClinVar RCV002449411
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.10
- MetaLR 0.50
- MetaSVM -0.33
- PolyPhen-2 0.00
- SIFT 0.22
- MutPred 0.64
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)