V17L (p.Val17Leu) variant of SIRT7 (Q9NRC8)
V17L (p.Val17Leu) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- ExAC rs747829799
- TOPMed rs747829799
- gnomAD rs747829799
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.04
- MetaSVM -1.09
- CADD 18.96
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available