W31* (p.Trp31Ter) variant of LEPR (Leptin receptor)
W31* (p.Trp31Ter) in LEPR (Leptin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W31* (p.Trp31Ter) variant details
- p.Trp31Ter
- rs945135468
- ClinGen CA16617181
- ClinVar RCV000479260
- ClinVar RCV004735562
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available