K5T (p.Lys5Thr) variant of LEPR (Leptin receptor)
K5T (p.Lys5Thr) in LEPR (Leptin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K5T (p.Lys5Thr) variant details
- p.Lys5Thr
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- CADD 20.90
- PolyPhen-2 0.12
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available