P37H (p.Pro37His) variant of SETBP1 (SET-binding protein)
P37H (p.Pro37His) 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 0.72 / 1. The record also includes population frequency data and structural context.
P37H (p.Pro37His) variant details
- p.Pro37His
- rs747388683
- ClinGen CA402481455
- ClinVar RCV001971925
- ExAC rs747388683
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available