V46I (p.Val46Ile) variant of PDGFRB (P09619)
V46I (p.Val46Ile) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- rs2113912660
- ClinGen CA361729342
- ClinVar RCV003267330
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0478
- REVEL 0.04
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- 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)