A72E (p.Ala72Glu) variant of RLBP1 (Retinaldehyde-binding protein 1)
A72E (p.Ala72Glu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A72E (p.Ala72Glu) variant details
- p.Ala72Glu
- ExAC rs772539351
- TOPMed rs772539351
- gnomAD rs772539351
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.20
- CADD 2.48
- PolyPhen-2 0.00
- SIFT 0.95
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available