Q62H (p.Gln62His) variant of GRN (Progranulin)
Q62H (p.Gln62His) in GRN (Progranulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q62H (p.Gln62His) variant details
- p.Gln62His
- gnomAD rs2048350899
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- CADD 15.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available