E60K (p.Glu60Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E60K (p.Glu60Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- ExAC rs760538477
- TOPMed rs760538477
- gnomAD rs760538477
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.32
- CADD 17.80
- PolyPhen-2 0.06
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available