A2T (p.Ala2Thr) variant of SIRT7 (Q9NRC8)
A2T (p.Ala2Thr) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ExAC rs770785941
- gnomAD rs770785941
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- ESM-1b 0.32
- AlphaMissense 0.25
- MetaLR 0.06
- MetaSVM -1.06
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available