R5R (p.Arg5Arg) variant of KIT (P10721)
R5R (p.Arg5Arg) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs1357038342
- gnomAD 4-54658029-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 14.80
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available