P38R (p.Pro38Arg) variant of PDGFRB (P09619)
P38R (p.Pro38Arg) in PDGFRB (P09619) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- NCI-TCGA Cosmic COSV5580
- ExAC rs754766440
- TOPMed rs754766440
- gnomAD rs754766440
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- CADD 14.10
- PolyPhen-2 0.09
- SIFT 0.53
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available