C12C (p.Cys12Cys) variant of KIT (P10721)
C12C (p.Cys12Cys) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C12C (p.Cys12Cys) variant details
- p.Cys12Cys
- rs1716942038
- gnomAD 4-54658050-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 15.10
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available