G127R (p.Gly127Arg) variant of CD8B (P10966)
G127R (p.Gly127Arg) 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 0.58 / 1. The record also includes population frequency data and structural context.
G127R (p.Gly127Arg) variant details
- p.Gly127Arg
- rs1288449111
- ClinGen CA347580661
- ClinVar RCV004435576
- TOPMed rs1288449111
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.71
- MetaLR 0.57
- MetaSVM 0.18
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available