P39A (p.Pro39Ala) variant of LEPR (Leptin receptor)
P39A (p.Pro39Ala) 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.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- gnomAD rs1557669207
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.64
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available