S49R (p.Ser49Arg) variant of CRX (Cone-rod homeobox protein)
S49R (p.Ser49Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- ExAC rs751665561
- gnomAD rs751665561
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.44
- CADD 23.60
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.125