Y16* (p.Tyr16Ter) variant of DDC (P20711)
Y16* (p.Tyr16Ter) in DDC (P20711) 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 0.26 / 1. The record also includes population frequency data and structural context.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- ExAC rs745576871
- TOPMed rs745576871
- gnomAD rs745576871
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available