L14V (p.Leu14Val) variant of KIT (P10721)
L14V (p.Leu14Val) in KIT (P10721) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- TOPMed rs1297912833
- gnomAD rs1297912833
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.92
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available