S34S (p.Ser34Ser) variant of CRX (Cone-rod homeobox protein)
S34S (p.Ser34Ser) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S34S (p.Ser34Ser) variant details
- p.Ser34Ser
- rs139778328
- gnomAD 19-47836244-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0853
- CADD 0.66
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.186
- Literature evidence available