P27L (p.Pro27Leu) variant of LEPR (Leptin receptor)
P27L (p.Pro27Leu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 1-65570512-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.29
- CADD 23.90
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available