T29N (p.Thr29Asn) variant of LEPR (Leptin receptor)
T29N (p.Thr29Asn) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T29N (p.Thr29Asn) variant details
- p.Thr29Asn
- gnomAD 1-65570518-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.08
- CADD 11.20
- PolyPhen-2 0.16
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available