A113V (p.Ala113Val) variant of SIRT7 (Q9NRC8)
A113V (p.Ala113Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A113V (p.Ala113Val) variant details
- p.Ala113Val
- TOPMed rs1364210247
- gnomAD rs1364210247
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.14
- MetaSVM -0.72
- CADD 33.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available