A40V (p.Ala40Val) variant of SIRT7 (Q9NRC8)
A40V (p.Ala40Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- gnomAD rs1229836314
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.06
- CADD 15.87
- Most common in the Ashkenazi Jewish population (allele frequency 4.9e-05)
- Structural context available