T16K (p.Thr16Lys) variant of PDGFRA (P16234)
T16K (p.Thr16Lys) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T16K (p.Thr16Lys) variant details
- p.Thr16Lys
- gnomAD 4-54258815-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available