P37L (p.Pro37Leu) variant of SETBP1 (SET-binding protein)
P37L (p.Pro37Leu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs747388683
- ClinGen CA8945331
- cosmic curated COSV10586
- ClinVar RCV001894433
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)