D54D (p.Asp54Asp) variant of OCRL (Q01968)
D54D (p.Asp54Asp) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D54D (p.Asp54Asp) variant details
- p.Asp54Asp
- gnomAD X-129545000-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available