M10L (p.Met10Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
M10L (p.Met10Leu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
M10L (p.Met10Leu) variant details
- p.Met10Leu
- TOPMed rs1175301117
- gnomAD rs1175301117
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.17
- CADD 0.49
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available