S54A (p.Ser54Ala) variant of RPE65 (Retinoid isomerohydrolase)
S54A (p.Ser54Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S54A (p.Ser54Ala) variant details
- p.Ser54Ala
- TOPMed rs930635180
- gnomAD rs930635180
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.28
- MetaLR 0.49
- MetaSVM -0.48
- CADD 19.30
- SIFT 0.79
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available