G15D (p.Gly15Asp) variant of SETBP1 (SET-binding protein)
G15D (p.Gly15Asp) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, 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 0.38 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs551453904
- ClinGen CA299822454
- ClinVar RCV003238009
- ExAC rs551453904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.24
- MetaLR 0.12
- MetaSVM -1.02
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available