W13C (p.Trp13Cys) variant of LEPR (Leptin receptor)
W13C (p.Trp13Cys) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
W13C (p.Trp13Cys) variant details
- p.Trp13Cys
- cosmic curated COSV10075
- 1000Genomes rs142395970
- ESP rs142395970
- ExAC rs142395970
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.16
- CADD 18.40
- PolyPhen-2 0.40
- SIFT 0.29
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available