S44T (p.Ser44Thr) variant of SIRT7 (Q9NRC8)
S44T (p.Ser44Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
S44T (p.Ser44Thr) variant details
- p.Ser44Thr
- TOPMed rs996817095
- gnomAD rs996817095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.09
- CADD 20.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available