E33E (p.Glu33Glu) variant of KIT (P10721)
E33E (p.Glu33Glu) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E33E (p.Glu33Glu) variant details
- p.Glu33Glu
- gnomAD 4-54695543-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 3.84
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available