D45V (p.Asp45Val) variant of LEPR (Leptin receptor)
D45V (p.Asp45Val) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D45V (p.Asp45Val) variant details
- p.Asp45Val
- ExAC rs777028748
- gnomAD rs777028748
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.23
- CADD 12.40
- PolyPhen-2 0.29
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available