P34L (p.Pro34Leu) variant of GRN (Progranulin)
P34L (p.Pro34Leu) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; GRN-related frontotemporal lobar degeneration with Tdp4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs977833315
- ClinGen CA290922260
- ClinVar RCV002369315
- ClinVar RCV005227659
- Uncertain significance
- Inborn genetic diseases; GRN-related frontotemporal lobar degeneration with Tdp4
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.12
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; GRN-related frontotemporal lobar degene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: GRN Frontotemporal Dementia. (PMID 20301545)