D118G (p.Asp118Gly) variant of SIRT7 (Q9NRC8)
D118G (p.Asp118Gly) in SIRT7 (Q9NRC8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
D118G (p.Asp118Gly) variant details
- p.Asp118Gly
- gnomAD rs1469435499
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.22
- MetaSVM -0.49
- CADD 32.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available