Y39Y (p.Tyr39Tyr) variant of OCRL (Q01968)
Y39Y (p.Tyr39Tyr) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Y39Y (p.Tyr39Tyr) variant details
- p.Tyr39Tyr
- rs780372889
- gnomAD X-129540821-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 17.50
- Most common in the Non-Finnish European population (allele frequency 9.6e-06)
- Structural context available
- Literature evidence available