A76T (p.Ala76Thr) variant of PDGFRB (P09619)
A76T (p.Ala76Thr) 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.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- gnomAD rs1346227937
- Missense
- Variant Prioritization Score for Impact Estimate 0.0777
- REVEL 0.01
- CADD 6.18
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available