E550K (p.Glu550Lys) variant of OCA2 (P protein)
E550K (p.Glu550Lys) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E550K (p.Glu550Lys) variant details
- p.Glu550Lys
- rs2140706418
- ClinGen CA391366107
- NCI-TCGA Cosmic COSV1006
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.80
- MetaSVM 0.72
- CADD 32.00
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)