Y105C (p.Tyr105Cys) variant of SIRT7 (Q9NRC8)
Y105C (p.Tyr105Cys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y105C (p.Tyr105Cys) variant details
- p.Tyr105Cys
- TOPMed rs1232041428
- gnomAD rs1232041428
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.14
- MetaSVM -0.83
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available