Y26H (p.Tyr26His) variant of LEPR (Leptin receptor)
Y26H (p.Tyr26His) 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 0.24 / 1. The record also includes population frequency data and structural context.
Y26H (p.Tyr26His) variant details
- p.Tyr26His
- rs778003419
- ClinGen CA894460
- ClinVar RCV004528741
- ExAC rs778003419
- Uncertain significance
- LEPR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.18
- SIFT 0.63
- ClinVar: Uncertain significance (LEPR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available