A9E (p.Ala9Glu) variant of RET (P07949)
A9E (p.Ala9Glu) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 10-43077284-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.28
- MetaLR 0.91
- MetaSVM 0.80
- CADD 12.60
- PolyPhen-2 0.20
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available