Q58* (p.Gln58Ter) variant of OCA2 (P protein)
Q58* (p.Gln58Ter) in OCA2 (P protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs781727577
- ClinGen CA7439556
- ClinVar RCV003041216
- ClinVar RCV003395573
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 28.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available