R11C (p.Arg11Cys) variant of SIRT7 (Q9NRC8)
R11C (p.Arg11Cys) 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 0.47 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs1489157032
- NCI-TCGA Cosmic COSV6081
- gnomAD rs1489157032
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.17
- MetaSVM -0.83
- CADD 28.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available