E56K (p.Glu56Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E56K (p.Glu56Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- gnomAD rs2051590505
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.37
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available