A60T (p.Ala60Thr) variant of CD8B (P10966)
A60T (p.Ala60Thr) 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 0.12 / 1. The record also includes population frequency data and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs1248329743
- ClinGen CA347581352
- ClinVar RCV004337159
- TOPMed rs1248329743
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.03
- MetaLR 0.20
- MetaSVM -0.94
- CADD 14.20
- PolyPhen-2 0.55
- SIFT 0.17
- 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