P20T (p.Pro20Thr) variant of RET (P07949)
P20T (p.Pro20Thr) in RET (P07949) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HSCR1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD rs1205904653
- Uncertain significance
- in HSCR1
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.29
- MetaLR 0.82
- MetaSVM 0.34
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 1.00
- EBI: Variant of uncertain significance (in HSCR1)
- UniProt: Uncertain significance (in HSCR1)
- Population evidence available
- Structural context available