G23G (p.Gly23Gly) variant of KIT (P10721)
G23G (p.Gly23Gly) in KIT (P10721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G23G (p.Gly23Gly) variant details
- p.Gly23Gly
- gnomAD 4-54695513-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 13.70
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available