L66V (p.Leu66Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
L66V (p.Leu66Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L66V (p.Leu66Val) variant details
- p.Leu66Val
- gnomAD rs1409257075
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.75
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available