P8A (p.Pro8Ala) variant of PDGFRB (P09619)
P8A (p.Pro8Ala) 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 0.33 / 1. The record also includes population frequency data and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs1760652843
- ClinGen CA361730826
- ClinVar RCV003149489
- TOPMed rs1760652843
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.91
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available