T16A (p.Thr16Ala) variant of PDGFRA (P16234)
T16A (p.Thr16Ala) in PDGFRA (P16234) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- TOPMed rs587778596
- gnomAD rs587778596
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- MetaLR 0.22
- MetaSVM -0.90
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.54
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available