M10V (p.Met10Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
M10V (p.Met10Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
M10V (p.Met10Val) variant details
- p.Met10Val
- rs1175301117
- ClinGen CA393731897
- ClinVar RCV001900888
- TOPMed rs1175301117
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.16
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available