E678K (p.Glu678Lys) variant of OCA2 (P protein)
E678K (p.Glu678Lys) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E678K (p.Glu678Lys) variant details
- p.Glu678Lys
- rs2039035706
- UniProt VAR 020633
- TOPMed rs2039035706
- Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.02
- CADD 32.00
- ClinVar: Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Benign (in unclassified OCA)
- UniProt: Benign (in unclassified OCA)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. (PMID 10649493)