P70T (p.Pro70Thr) variant of LEPR (Leptin receptor)
P70T (p.Pro70Thr) in LEPR (Leptin receptor) 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 0.31 / 1. The record also includes population frequency data and structural context.
P70T (p.Pro70Thr) variant details
- p.Pro70Thr
- 1000Genomes rs531684351
- ExAC rs531684351
- gnomAD rs531684351
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.12
- CADD 6.90
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available