L14L (p.Leu14Leu) variant of KIT (P10721)
L14L (p.Leu14Leu) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs1297912833
- gnomAD 4-54658054-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available