D45N (p.Asp45Asn) variant of CD276 (CD276 antigen)
D45N (p.Asp45Asn) in CD276 (CD276 antigen) 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 0.26 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs541095307
- NCI-TCGA Cosmic COSV5920
- cosmic curated COSV59203
- ExAC rs541095307
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available