I43I (p.Ile43Ile) variant of OCRL (Q01968)
I43I (p.Ile43Ile) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I43I (p.Ile43Ile) variant details
- p.Ile43Ile
- gnomAD X-129544967-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available