V69L (p.Val69Leu) variant of SETBP1 (SET-binding protein)
V69L (p.Val69Leu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- NCI-TCGA TCGA novel
- Ensembl rs2069116618
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 22.30
- PolyPhen-2 0.20
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available