G120R (p.Gly120Arg) variant of CD8B (P10966)
G120R (p.Gly120Arg) in CD8B (P10966) 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 0.26 / 1. The record also includes population frequency data and structural context.
G120R (p.Gly120Arg) variant details
- p.Gly120Arg
- rs774487455
- ClinGen CA1751551
- cosmic curated COSV58925
- ClinVar RCV004084621
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.11
- MetaLR 0.32
- MetaSVM -0.79
- CADD 22.00
- PolyPhen-2 0.64
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available