S60L (p.Ser60Leu) variant of LEPR (Leptin receptor)
S60L (p.Ser60Leu) 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 0.08 / 1. The record also includes population frequency data and structural context.
S60L (p.Ser60Leu) variant details
- p.Ser60Leu
- rs1433955773
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60758
- NCI-TCGA Cosmic COSV6076
- Uncertain significance
- LEPR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- REVEL 0.04
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (LEPR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available