V84A (p.Val84Ala) variant of PDGFRB (P09619)
V84A (p.Val84Ala) 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 0.06 / 1. The record also includes population frequency data and structural context.
V84A (p.Val84Ala) variant details
- p.Val84Ala
- rs2113912296
- ClinGen CA361728261
- ClinVar RCV001758787
- Ensembl rs2113912296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0604
- REVEL 0.03
- CADD 5.00
- PolyPhen-2 0.16
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available