A52S (p.Ala52Ser) variant of SIRT7 (Q9NRC8)
A52S (p.Ala52Ser) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- gnomAD rs1257337635
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.06
- CADD 20.30
- Population evidence available
- Structural context available