A8D (p.Ala8Asp) variant of RET (P07949)
A8D (p.Ala8Asp) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 10-43077281-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.26
- MetaLR 0.87
- MetaSVM 0.68
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available