H46H (p.His46His) variant of OCRL (Q01968)
H46H (p.His46His) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H46H (p.His46His) variant details
- p.His46His
- gnomAD X-129544976-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.07
- Population evidence available
- Structural context available
- Literature evidence available