A4E (p.Ala4Glu) variant of RET (P07949)
A4E (p.Ala4Glu) 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 0.49 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- cosmic curated COSV60686
- Ensembl rs1837063876
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.38
- MetaLR 0.91
- MetaSVM 0.80
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available