T404M (p.Thr404Met) variant of OCA2 (P protein)
T404M (p.Thr404Met) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of OCA2-related disorder; Albinism or congenital nystagmus; Oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
T404M (p.Thr404Met) variant details
- p.Thr404Met
- rs144812594
- ClinGen CA277110
- cosmic curated COSV62339
- ClinVar RCV000193262
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Albinism or congenital nystagmus; Oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.92
- MetaSVM 1.05
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Albinism or congenital nystagmus; Oculocu)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular… (PMID 23504663)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)