A9P (p.Ala9Pro) variant of RET (P07949)
A9P (p.Ala9Pro) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD 10-43077283-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.33
- MetaLR 0.93
- MetaSVM 0.82
- CADD 21.30
- PolyPhen-2 0.38
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available