Q31K (p.Gln31Lys) variant of PDGFRB (P09619)
Q31K (p.Gln31Lys) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Infantile myofibromatosis; Basal ganglia calcification, idiopathic, 4; Skeletal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- ExAC rs764493388
- gnomAD rs764493388
- Uncertain significance
- Infantile myofibromatosis; Basal ganglia calcification, idiopathic, 4; Skeletal
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.06
- CADD 2.55
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (Infantile myofibromatosis; Basal ganglia calcification, idiopath)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.9e-05)
- Structural context available