E64Q (p.Glu64Gln) variant of CD28 (P10747)
E64Q (p.Glu64Gln) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E64Q (p.Glu64Gln) variant details
- p.Glu64Gln
- gnomAD 2-203726770-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.41
- MetaLR 0.50
- MetaSVM 0.02
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available