Y39F (p.Tyr39Phe) variant of GRN (Progranulin)
Y39F (p.Tyr39Phe) in GRN (Progranulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal loba. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y39F (p.Tyr39Phe) variant details
- p.Tyr39Phe
- TOPMed rs2048349047
- gnomAD rs2048349047
- Uncertain significance
- not provided; Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal loba
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.55
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Neuronal ceroid lipofuscinosis 11; GRN-related fro)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available