S44I (p.Ser44Ile) variant of SIRT7 (Q9NRC8)
S44I (p.Ser44Ile) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- TOPMed rs996817095
- gnomAD rs996817095
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.11
- MetaSVM -0.96
- CADD 28.20
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available