D33N (p.Asp33Asn) variant of CD28 (P10747)
D33N (p.Asp33Asn) in CD28 (P10747) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs1371617402
- NCI-TCGA Cosmic COSV6073
- cosmic curated COSV60730
- TOPMed rs1371617402
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0945
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -0.93
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available