K55N (p.Lys55Asn) variant of LEPR (Leptin receptor)
K55N (p.Lys55Asn) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- rs2100804678
- ClinGen CA340672212
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60754
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 8.19
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available