P82L (p.Pro82Leu) variant of SIRT7 (Q9NRC8)
P82L (p.Pro82Leu) in SIRT7 (Q9NRC8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- TOPMed rs1165140090
- gnomAD rs1165140090
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.09
- CADD 26.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available