A2A (p.Ala2Ala) variant of CRB1 (Protein crumbs homolog 1)
A2A (p.Ala2Ala) in CRB1 (Protein crumbs homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 1-197268418-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available