R19R (p.Arg19Arg) variant of KIT (P10721)
R19R (p.Arg19Arg) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R19R (p.Arg19Arg) variant details
- p.Arg19Arg
- rs776887125
- gnomAD 4-54658071-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 15.40
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available