E96K (p.Glu96Lys) variant of OCA2 (P protein)
E96K (p.Glu96Lys) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; OCA2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- rs372184971
- ClinGen CA267888793
- ClinVar RCV001896649
- ClinVar RCV006458761
- Conflicting interpretations
- not specified; OCA2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.59
- ESM-1b 0.36
- AlphaMissense 0.14
- MetaLR 0.92
- MetaSVM 1.18
- CADD 27.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; OCA2-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available