W61* (p.Trp61Ter) variant of OCA2 (P protein)
W61* (p.Trp61Ter) in OCA2 (P protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
W61* (p.Trp61Ter) variant details
- p.Trp61Ter
- ExAC rs752161782
- TOPMed rs752161782
- gnomAD rs752161782
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 33.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available