C93* (p.Cys93Ter) variant of OCA2 (P protein)
C93* (p.Cys93Ter) in OCA2 (P protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C93* (p.Cys93Ter) variant details
- p.Cys93Ter
- 1000Genomes rs2141380194
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 34.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available