S134I (p.Ser134Ile) variant of SIRT7 (Q9NRC8)
S134I (p.Ser134Ile) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S134I (p.Ser134Ile) variant details
- p.Ser134Ile
- ExAC rs778687363
- TOPMed rs778687363
- gnomAD rs778687363
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -0.99
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available