L140M (p.Leu140Met) variant of SIRT7 (Q9NRC8)
L140M (p.Leu140Met) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L140M (p.Leu140Met) variant details
- p.Leu140Met
- ExAC rs200817918
- TOPMed rs200817918
- gnomAD rs200817918
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.08
- MetaSVM -1.09
- CADD 22.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available