L6V (p.Leu6Val) variant of SIRT7 (Q9NRC8)
L6V (p.Leu6Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- ExAC rs758634203
- TOPMed rs758634203
- gnomAD rs758634203
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.10
- CADD 16.84
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available