N317K (p.Asn317Lys) variant of MITF (O75030)
N317K (p.Asn317Lys) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N317K (p.Asn317Lys) variant details
- p.Asn317Lys
- rs104893745
- ClinGen CA213179
- ClinVar RCV000015345
- UniProt VAR 010298
- Likely pathogenic
- Waardenburg syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.74
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2A)
- EBI: Pathogenic (in TADS)
- UniProt: Pathogenic (in TADS)
- Population evidence available
- Structural context available
- Cited in: Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. (PMID 10851256)
- Cited in: A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. (PMID 13985019)