P70L (p.Pro70Leu) variant of LEPR (Leptin receptor)
P70L (p.Pro70Leu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- gnomAD 1-65570641-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.08
- CADD 7.65
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available