L80V (p.Leu80Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
L80V (p.Leu80Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- rs1380923865
- ClinGen CA393730869
- ClinVar RCV001233372
- TOPMed rs1380923865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available