E22V (p.Glu22Val) variant of SIRT7 (Q9NRC8)
E22V (p.Glu22Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- TOPMed rs2040841734
- gnomAD rs2040841734
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.04
- MetaSVM -1.07
- CADD 24.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available