L3F (p.Leu3Phe) variant of GHR (Growth hormone receptor)
L3F (p.Leu3Phe) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- cosmic curated COSV50119
- TOPMed rs1241437411
- gnomAD rs1241437411
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.48
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available