V50M (p.Val50Met) variant of SETBP1 (SET-binding protein)
V50M (p.Val50Met) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs368634398
- ClinGen CA8945337
- ClinVar RCV001948382
- ClinVar RCV005271535
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 23.60
- PolyPhen-2 0.32
- SIFT 0.04
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)