D118V (p.Asp118Val) variant of SIRT7 (Q9NRC8)
D118V (p.Asp118Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D118V (p.Asp118Val) variant details
- p.Asp118Val
- gnomAD rs1469435499
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM 0.02
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available