K20M (p.Lys20Met) variant of CD28 (P10747)
K20M (p.Lys20Met) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K20M (p.Lys20Met) variant details
- p.Lys20Met
- ExAC rs781492330
- gnomAD rs781492330
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.55
- MetaLR 0.64
- MetaSVM 0.29
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available