I805M (p.Ile805Met) variant of KIT (P10721)
I805M (p.Ile805Met) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Piebaldism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I805M (p.Ile805Met) variant details
- p.Ile805Met
- ExAC rs751206924
- gnomAD rs751206924
- Pathogenic
- Piebaldism
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.55
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Piebaldism)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available