L17Q (p.Leu17Gln) variant of KIT (P10721)
L17Q (p.Leu17Gln) in KIT (P10721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- ExAC rs748615975
- gnomAD rs748615975
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.37
- MetaLR 0.29
- MetaSVM -0.81
- CADD 22.00
- PolyPhen-2 0.35
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available