V68A (p.Val68Ala) variant of CD28 (P10747)
V68A (p.Val68Ala) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V68A (p.Val68Ala) variant details
- p.Val68Ala
- ExAC rs746965559
- TOPMed rs746965559
- gnomAD rs746965559
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.32
- MetaLR 0.49
- MetaSVM -0.32
- CADD 19.60
- PolyPhen-2 0.59
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available