R2G (p.Arg2Gly) variant of PDGFRB (P09619)
R2G (p.Arg2Gly) in PDGFRB (P09619) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- ESP rs148272095
- ExAC rs148272095
- TOPMed rs148272095
- gnomAD rs148272095
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0754
- REVEL 0.03
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available