D84N (p.Asp84Asn) variant of BAK1 (Q16611)
D84N (p.Asp84Asn) in BAK1 (Q16611) 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 0.24 / 1. The record also includes population frequency data and structural context.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- rs892929984
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- TOPMed rs892929984
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available