L18I (p.Leu18Ile) variant of KIT (P10721)
L18I (p.Leu18Ile) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- gnomAD 4-54658066-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.09
- CADD 17.00
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available