I42I (p.Ile42Ile) variant of OCRL (Q01968)
I42I (p.Ile42Ile) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I42I (p.Ile42Ile) variant details
- p.Ile42Ile
- gnomAD X-129544964-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available