E15K (p.Glu15Lys) variant of PDGFRB (P09619)
E15K (p.Glu15Lys) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs148853962
- ClinGen CA3508423
- ClinVar RCV001070780
- ClinVar RCV004693584
- Uncertain significance
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.10
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-w)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)