D162N (p.Asp162Asn) variant of PBRM1 (Protein polybromo-1)
D162N (p.Asp162Asn) in PBRM1 (Protein polybromo-1) 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 0.36 / 1. The record also includes population frequency data and structural context.
D162N (p.Asp162Asn) variant details
- p.Asp162Asn
- NCI-TCGA TCGA novel
- Ensembl rs2153924469
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available