E425K (p.Glu425Lys) variant of MITF (O75030)
E425K (p.Glu425Lys) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic; risk factor in the context of Melanoma, cutaneous malignant, susceptibility to, 8; Waardenburg syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E425K (p.Glu425Lys) variant details
- p.Glu425Lys
- rs149617956
- ClinGen CA128649
- cosmic curated COSV10811
- ClinVar RCV000022661
- Pathogenic/Likely pathogenic; risk factor
- Melanoma, cutaneous malignant, susceptibility to, 8; Waardenburg syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.44
- CADD 28.10
- PolyPhen-2 0.88
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic; risk factor (Melanoma, cutaneous malignant, susceptibility to, 8; Waardenburg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. (PMID 22012259)
- Cited in: A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. (PMID 22080950)