A68A (p.Ala68Ala) variant of CRX (Cone-rod homeobox protein)
A68A (p.Ala68Ala) in CRX (Cone-rod homeobox protein) 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.
A68A (p.Ala68Ala) variant details
- p.Ala68Ala
- gnomAD 19-47836346-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.52
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available