L18P (p.Leu18Pro) variant of KIT (P10721)
L18P (p.Leu18Pro) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- Ensembl rs2109521273
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.59
- AlphaMissense 0.21
- MetaLR 0.38
- MetaSVM -0.66
- CADD 23.50
- PolyPhen-2 0.85
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available