P82A (p.Pro82Ala) variant of SIRT7 (Q9NRC8)
P82A (p.Pro82Ala) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- ExAC rs769022601
- TOPMed rs769022601
- gnomAD rs769022601
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.08
- ESM-1b 0.76
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.06
- CADD 21.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available