I29F (p.Ile29Phe) variant of PDGFRB (P09619)
I29F (p.Ile29Phe) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Myofibromatosis, infantile, 1; not specified; Acroosteolysis-keloid-like lesions. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
I29F (p.Ile29Phe) variant details
- p.Ile29Phe
- rs17110944
- ClinGen CA3508416
- ClinVar RCV000551181
- ClinVar RCV001573749
- Benign
- Myofibromatosis, infantile, 1; not specified; Acroosteolysis-keloid-like lesions
- Missense
- Variant Prioritization Score for Impact Estimate 0.0434
- REVEL 0.02
- CADD 0.87
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Benign (Myofibromatosis, infantile, 1; not specified; Acroosteolysis-kel)
- EBI: Benign (in dbSNP:rs17110944)
- UniProt: Benign (in dbSNP:rs17110944)
- Most common in the HGDP:KARITIANA population (allele frequency 0.55)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)