I100M (p.Ile100Met) variant of RLBP1 (Retinaldehyde-binding protein 1)
I100M (p.Ile100Met) 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 0.49 / 1. The record also includes population frequency data and structural context.
I100M (p.Ile100Met) variant details
- p.Ile100Met
- TOPMed rs972531990
- gnomAD rs972531990
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.57
- CADD 24.20
- PolyPhen-2 0.56
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available