E142K (p.Glu142Lys) variant of SIRT7 (Q9NRC8)
E142K (p.Glu142Lys) 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 0.23 / 1. The record also includes population frequency data and structural context.
E142K (p.Glu142Lys) variant details
- p.Glu142Lys
- rs754316168
- ClinGen CA8844862
- ClinVar RCV004455954
- ExAC rs754316168
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.05
- CADD 20.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available