G23A (p.Gly23Ala) variant of RET (P07949)
G23A (p.Gly23Ala) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- gnomAD 10-43077326-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.31
- MetaLR 0.88
- MetaSVM 0.55
- CADD 20.90
- PolyPhen-2 0.15
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available