I21T (p.Ile21Thr) variant of PDGFRA (P16234)
I21T (p.Ile21Thr) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- TOPMed rs1334714267
- gnomAD rs1334714267
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -0.99
- CADD 13.10
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available