H78P (p.His78Pro) variant of LEPR (Leptin receptor)
H78P (p.His78Pro) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H78P (p.His78Pro) variant details
- p.His78Pro
- gnomAD rs1310080000
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.21
- CADD 11.80
- PolyPhen-2 0.25
- SIFT 0.20
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available