Q106* (p.Gln106Ter) variant of OCA2 (P protein)
Q106* (p.Gln106Ter) in OCA2 (P protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Q106* (p.Gln106Ter) variant details
- p.Gln106Ter
- rs2042921188
- ClinVar RCV004574415
- ClinVar RCV005003768
- ClinVar RCV005254912
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.9
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)