Q77L (p.Gln77Leu) variant of PDGFRB (P09619)
Q77L (p.Gln77Leu) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q77L (p.Gln77Leu) variant details
- p.Gln77Leu
- TOPMed rs1269978839
- gnomAD rs1269978839
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- CADD 19.90
- PolyPhen-2 0.52
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available