L71V (p.Leu71Val) variant of SIRT7 (Q9NRC8)
L71V (p.Leu71Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L71V (p.Leu71Val) variant details
- p.Leu71Val
- Ensembl rs2143797381
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.08
- CADD 18.73
- Most common in the East Asian population (allele frequency 7.4e-05)
- Structural context available