T22K (p.Thr22Lys) variant of KIT (P10721)
T22K (p.Thr22Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
T22K (p.Thr22Lys) variant details
- p.Thr22Lys
- ExAC rs769943127
- TOPMed rs769943127
- gnomAD rs769943127
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.24
- MetaLR 0.24
- MetaSVM -0.60
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available