N43K (p.Asn43Lys) variant of LEP (Leptin)
N43K (p.Asn43Lys) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- gnomAD 7-128252147-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- CADD 16.00
- PolyPhen-2 0.53
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available