L22R (p.Leu22Arg) variant of PDGFRB (P09619)
L22R (p.Leu22Arg) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- gnomAD rs1238451735
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.30
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available