H30Q (p.His30Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
H30Q (p.His30Gln) 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 0.30 / 1. The record also includes population frequency data and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- rs746395372
- ExAC rs746395372
- TOPMed rs746395372
- gnomAD rs746395372
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.41
- CADD 11.50
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available