P82S (p.Pro82Ser) variant of SIRT7 (Q9NRC8)
P82S (p.Pro82Ser) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P82S (p.Pro82Ser) variant details
- p.Pro82Ser
- ExAC rs769022601
- TOPMed rs769022601
- gnomAD rs769022601
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.10
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available