V104I (p.Val104Ile) variant of SIRT7 (Q9NRC8)
V104I (p.Val104Ile) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V104I (p.Val104Ile) variant details
- p.Val104Ile
- gnomAD rs1442811394
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.40
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available