T80I (p.Thr80Ile) variant of PDGFRB (P09619)
T80I (p.Thr80Ile) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T80I (p.Thr80Ile) variant details
- p.Thr80Ile
- TOPMed rs1760607501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 6.68
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available