K6E (p.Lys6Glu) variant of CD2 (T-cell surface antigen CD2)
K6E (p.Lys6Glu) in CD2 (T-cell surface antigen CD2) is a missense change. Clinical records from ClinVar 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.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- TOPMed rs1469572192
- gnomAD rs1469572192
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -1.00
- CADD 1.61
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available