I45V (p.Ile45Val) variant of LEP (Leptin)
I45V (p.Ile45Val) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEP-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.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- rs145044661
- ClinGen CA4469634
- ClinVar RCV003969022
- ESP rs145044661
- Uncertain significance
- LEP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.22
- CADD 11.50
- PolyPhen-2 0.23
- SIFT 0.13
- ClinVar: Uncertain significance (LEP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00075)
- Structural context available