E64K (p.Glu64Lys) variant of CD28 (P10747)
E64K (p.Glu64Lys) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- cosmic curated COSV60730
- gnomAD rs1274571413
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.47
- MetaLR 0.45
- MetaSVM -0.14
- CADD 22.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available