L92M (p.Leu92Met) variant of SIRT7 (Q9NRC8)
L92M (p.Leu92Met) in SIRT7 (Q9NRC8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
L92M (p.Leu92Met) variant details
- p.Leu92Met
- rs2510093839
- ClinGen CA401530514
- ClinVar RCV004455953
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.17
- MetaSVM -0.80
- CADD 24.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available