P30H (p.Pro30His) variant of LEPR (Leptin receptor)
P30H (p.Pro30His) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P30H (p.Pro30His) variant details
- p.Pro30His
- gnomAD 1-65570521-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.59
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available