R120W (p.Arg120Trp) variant of SIRT7 (Q9NRC8)
R120W (p.Arg120Trp) in SIRT7 (Q9NRC8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R120W (p.Arg120Trp) variant details
- p.Arg120Trp
- rs770215946
- NCI-TCGA Cosmic COSV1001
- ExAC rs770215946
- gnomAD rs770215946
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.51
- MetaSVM 0.45
- CADD 28.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available