N33S (p.Asn33Ser) variant of VCP (P55072)
N33S (p.Asn33Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- gnomAD rs1351617227
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available