E78K (p.Glu78Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E78K (p.Glu78Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- NCI-TCGA Cosmic COSV5152
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.20
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available