N35Y (p.Asn35Tyr) variant of VPS13C (Q709C8)
N35Y (p.Asn35Tyr) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N35Y (p.Asn35Tyr) variant details
- p.Asn35Tyr
- rs574439435
- ClinGen CA7597689
- ClinVar RCV002100709
- 1000Genomes rs574439435
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.57
- MetaSVM 0.05
- CADD 24.60
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available