E14D (p.Glu14Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
E14D (p.Glu14Asp) in RLBP1 (Retinaldehyde-binding protein 1) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- rs1041040938
- ClinGen CA393731866
- ClinVar RCV003889692
- TOPMed rs1041040938
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.24
- CADD 14.20
- PolyPhen-2 0.07
- SIFT 0.05
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)