P40T (p.Pro40Thr) variant of PDGFRB (P09619)
P40T (p.Pro40Thr) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- gnomAD rs1204706180
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.02
- CADD 18.40
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available