P4L (p.Pro4Leu) variant of PDGFRB (P09619)
P4L (p.Pro4Leu) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; Basal ganglia calcification, idiopathic, 4; Infantile myofibromat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs144923639
- ClinGen CA3508461
- ClinVar RCV003810031
- ClinVar RCV005435309
- Benign
- not specified; Basal ganglia calcification, idiopathic, 4; Infantile myofibromat
- Missense
- Variant Prioritization Score for Impact Estimate 0.0568
- REVEL 0.02
- CADD 5.28
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Benign (not specified; Basal ganglia calcification, idiopathic, 4; Infan)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)