E53K (p.Glu53Lys) variant of SIRT7 (Q9NRC8)
E53K (p.Glu53Lys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- TOPMed rs1484288625
- gnomAD rs1484288625
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available