A8T (p.Ala8Thr) variant of RET (P07949)
A8T (p.Ala8Thr) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD rs1476325851
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.19
- MetaLR 0.86
- MetaSVM 0.48
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available