G121S (p.Gly121Ser) variant of SIRT7 (Q9NRC8)
G121S (p.Gly121Ser) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G121S (p.Gly121Ser) variant details
- p.Gly121Ser
- TOPMed rs567495341
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.10
- MetaSVM -1.08
- CADD 29.70
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available