V9A (p.Val9Ala) variant of LEPR (Leptin receptor)
V9A (p.Val9Ala) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEPR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- ExAC rs755465413
- TOPMed rs755465413
- gnomAD rs755465413
- Uncertain significance
- LEPR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (LEPR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available