S33L (p.Ser33Leu) variant of SIRT7 (Q9NRC8)
S33L (p.Ser33Leu) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S33L (p.Ser33Leu) variant details
- p.Ser33Leu
- TOPMed rs1032292993
- gnomAD rs1032292993
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.06
- MetaSVM -1.07
- CADD 25.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available