A67S (p.Ala67Ser) variant of LEPR (Leptin receptor)
A67S (p.Ala67Ser) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- gnomAD 1-65570631-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0437
- REVEL 0.03
- CADD 0.09
- PolyPhen-2 0.07
- SIFT 0.52
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available