T33N (p.Thr33Asn) variant of LEP (Leptin)
T33N (p.Thr33Asn) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T33N (p.Thr33Asn) variant details
- p.Thr33Asn
- ExAC rs752496962
- gnomAD rs752496962
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.37
- CADD 20.60
- PolyPhen-2 0.92
- SIFT 0.20
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available