A114V (p.Ala114Val) variant of SIRT7 (Q9NRC8)
A114V (p.Ala114Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- ExAC rs760278283
- gnomAD rs760278283
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.24
- MetaSVM -0.41
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available