P70R (p.Pro70Arg) variant of LEPR (Leptin receptor)
P70R (p.Pro70Arg) 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 0.12 / 1. The record also includes population frequency data and structural context.
P70R (p.Pro70Arg) variant details
- p.Pro70Arg
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60765
- TOPMed rs1654089593
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.07
- CADD 9.82
- PolyPhen-2 0.00
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available