D70E (p.Asp70Glu) variant of SETBP1 (SET-binding protein)
D70E (p.Asp70Glu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- rs142975703
- ClinGen CA8945349
- ClinVar RCV003579145
- ESP rs142975703
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 20.50
- PolyPhen-2 0.13
- SIFT 0.19
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available