V135I (p.Val135Ile) variant of SIRT7 (Q9NRC8)
V135I (p.Val135Ile) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
V135I (p.Val135Ile) variant details
- p.Val135Ile
- ESP rs141043586
- ExAC rs141043586
- TOPMed rs141043586
- gnomAD rs141043586
- Missense
- Variant Prioritization Score for Impact Estimate 0.0964
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.95
- CADD 1.86
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available