E3D (p.Glu3Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
E3D (p.Glu3Asp) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs146844731
- ClinGen CA7722426
- ClinVar RCV000902680
- ClinVar RCV001000383
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.25
- CADD 9.89
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available