K22E (p.Lys22Glu) variant of MITF (O75030)
K22E (p.Lys22Glu) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MITF-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K22E (p.Lys22Glu) variant details
- p.Lys22Glu
- rs1323075294
- ClinGen CA353558827
- ClinVar RCV003947227
- Uncertain significance
- MITF-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.28
- ClinVar: Uncertain significance (MITF-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available