P82R (p.Pro82Arg) variant of SIRT7 (Q9NRC8)
P82R (p.Pro82Arg) in SIRT7 (Q9NRC8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P82R (p.Pro82Arg) variant details
- p.Pro82Arg
- TOPMed rs1165140090
- gnomAD rs1165140090
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.11
- CADD 29.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available