L6R (p.Leu6Arg) variant of SIRT7 (Q9NRC8)
L6R (p.Leu6Arg) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- TOPMed rs2040843750
- gnomAD rs2040843750
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.10
- CADD 15.48
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available