E65Q (p.Glu65Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
E65Q (p.Glu65Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E65Q (p.Glu65Gln) variant details
- p.Glu65Gln
- ExAC rs759789501
- gnomAD rs759789501
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.33
- CADD 19.90
- PolyPhen-2 0.11
- SIFT 0.25
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available