L29V (p.Leu29Val) variant of SIRT7 (Q9NRC8)
L29V (p.Leu29Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- gnomAD rs1251072463
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.07
- CADD 21.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available