N86D (p.Asn86Asp) variant of BAK1 (Q16611)
N86D (p.Asn86Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
N86D (p.Asn86Asp) variant details
- p.Asn86Asp
- rs1283682592
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- gnomAD rs1283682592
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available