N45K (p.Asn45Lys) variant of CD28 (P10747)
N45K (p.Asn45Lys) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N45K (p.Asn45Lys) variant details
- p.Asn45Lys
- gnomAD 2-203726715-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.34
- MetaLR 0.57
- MetaSVM -0.33
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available