M73V (p.Met73Val) variant of PDGFRB (P09619)
M73V (p.Met73Val) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Infantile myofibromatosis; Basal ganglia calcification, idiopathic, 4; Skeletal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
M73V (p.Met73Val) variant details
- p.Met73Val
- TOPMed rs1230244085
- Likely benign
- Infantile myofibromatosis; Basal ganglia calcification, idiopathic, 4; Skeletal
- Missense
- Variant Prioritization Score for Impact Estimate 0.0472
- REVEL 0.03
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Likely benign (Infantile myofibromatosis; Basal ganglia calcification, idiopath)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available