P70R (p.Pro70Arg) variant of PDGFRB (P09619)
P70R (p.Pro70Arg) in PDGFRB (P09619) is a missense change. 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.
P70R (p.Pro70Arg) variant details
- p.Pro70Arg
- ExAC rs746904891
- gnomAD rs746904891
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.08
- CADD 0.01
- PolyPhen-2 0.43
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available