T112M (p.Thr112Met) variant of SIRT7 (Q9NRC8)
T112M (p.Thr112Met) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T112M (p.Thr112Met) variant details
- p.Thr112Met
- Ensembl rs2040830050
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.26
- MetaSVM -0.09
- CADD 35.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available