T5K (p.Thr5Lys) variant of RET (P07949)
T5K (p.Thr5Lys) in RET (P07949) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T5K (p.Thr5Lys) variant details
- p.Thr5Lys
- gnomAD rs1444096302
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- AlphaMissense 0.22
- MetaLR 0.84
- MetaSVM 0.21
- CADD 18.90
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available