R19C (p.Arg19Cys) variant of KIT (P10721)
R19C (p.Arg19Cys) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs1490714621
- NCI-TCGA Cosmic COSV5538
- NCI-TCGA Cosmic COSV5539
- gnomAD rs1490714621
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.22
- AlphaMissense 0.20
- MetaLR 0.32
- MetaSVM -0.67
- CADD 21.70
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available