A59S (p.Ala59Ser) variant of CRX (Cone-rod homeobox protein)
A59S (p.Ala59Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- TOPMed rs1405463340
- gnomAD rs1405463340
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.41
- CADD 20.50
- PolyPhen-2 0.17
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available