K71T (p.Lys71Thr) variant of LEPR (Leptin receptor)
K71T (p.Lys71Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
K71T (p.Lys71Thr) variant details
- p.Lys71Thr
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- CADD 9.40
- PolyPhen-2 0.08
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available