P37A (p.Pro37Ala) variant of PDGFRB (P09619)
P37A (p.Pro37Ala) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- rs748906060
- ClinGen CA3508409
- ClinVar RCV002290932
- ExAC rs748906060
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available