G7A (p.Gly7Ala) variant of RET (P07949)
G7A (p.Gly7Ala) in RET (P07949) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- gnomAD 10-43077276-CGGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available