N34D (p.Asn34Asp) variant of CD28 (P10747)
N34D (p.Asn34Asp) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- gnomAD rs1263146496
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- MetaLR 0.40
- MetaSVM -0.65
- CADD 18.30
- PolyPhen-2 0.67
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available