G39R (p.Gly39Arg) variant of PDGFRB (P09619)
G39R (p.Gly39Arg) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- ExAC rs750457698
- gnomAD rs750457698
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.83
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available