R89C (p.Arg89Cys) variant of SLC2A1 (P11166)
R89C (p.Arg89Cys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs961569873
- ClinGen CA339961583
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV003230084
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available