A160T (p.Ala160Thr) variant of VCP (P55072)
A160T (p.Ala160Thr) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
A160T (p.Ala160Thr) variant details
- p.Ala160Thr
- rs1554668805
- ClinGen CA373289514
- ClinVar RCV003139268
- UniProt VAR 088265
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.48
- MetaLR 0.81
- MetaSVM 0.37
- PolyPhen-2 0.00
- SIFT 0.26
- EVE 0.10
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in IBMPFD1)
- UniProt: Likely pathogenic (in IBMPFD1)
- Structural context available
- Cited in: Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. (PMID 36980948)
- Cited in: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant… (PMID 15034582)