Q77P (p.Gln77Pro) variant of PDGFRB (P09619)
Q77P (p.Gln77Pro) in PDGFRB (P09619) is a missense change. 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.
Q77P (p.Gln77Pro) variant details
- p.Gln77Pro
- TOPMed rs1269978839
- gnomAD rs1269978839
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.06
- CADD 19.70
- PolyPhen-2 0.82
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available