P59L (p.Pro59Leu) variant of PDGFRB (P09619)
P59L (p.Pro59Leu) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperela. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs202213873
- ClinGen CA3508391
- ClinVar RCV001223591
- ClinVar RCV002563647
- Conflicting interpretations
- Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperela
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.13
- CADD 24.30
- PolyPhen-2 0.49
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysm)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)