Y44S (p.Tyr44Ser) variant of LEPR (Leptin receptor)
Y44S (p.Tyr44Ser) 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.
Y44S (p.Tyr44Ser) variant details
- p.Tyr44Ser
- gnomAD 1-65570563-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.04
- CADD 7.10
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available