E57V (p.Glu57Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
E57V (p.Glu57Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E57V (p.Glu57Val) variant details
- p.Glu57Val
- gnomAD rs1478235325
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available