N19D (p.Asn19Asp) variant of CD28 (P10747)
N19D (p.Asn19Asp) in CD28 (P10747) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N19D (p.Asn19Asp) variant details
- p.Asn19Asp
- ExAC rs200799799
- TOPMed rs200799799
- gnomAD rs200799799
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.22
- MetaLR 0.39
- MetaSVM -0.52
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)
- Structural context available