N21S (p.Asn21Ser) variant of VCP (P55072)
N21S (p.Asn21Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- rs1409460709
- ClinGen CA373295168
- ClinVar RCV001900926
- ClinVar RCV005298921
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- AlphaMissense 0.15
- MetaLR 0.81
- MetaSVM 0.51
- CADD 19.80
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)