V78M (p.Val78Met) variant of SIRT7 (Q9NRC8)
V78M (p.Val78Met) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V78M (p.Val78Met) variant details
- p.Val78Met
- TOPMed rs2040832423
- gnomAD rs2040832423
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.06
- MetaSVM -1.08
- CADD 27.50
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available