R153S (p.Arg153Ser) variant of VPS13C (Q709C8)
R153S (p.Arg153Ser) in VPS13C (Q709C8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R153S (p.Arg153Ser) variant details
- p.Arg153Ser
- 1000Genomes rs180757384
- ExAC rs180757384
- TOPMed rs180757384
- gnomAD rs180757384
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.07
- MetaSVM -1.07
- CADD 23.20
- EBI: Likely benign (in dbSNP:rs12595158)
- UniProt: Likely benign (in dbSNP:rs12595158)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available