P34A (p.Pro34Ala) variant of GRN (Progranulin)
P34A (p.Pro34Ala) 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 0.35 / 1. The record also includes published literature and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- rs748147151
- ClinGen CA10649397
- ClinVar RCV000315887
- ClinVar RCV003168477
- Uncertain significance
- Inborn genetic diseases; GRN-related frontotemporal lobar degeneration with Tdp4
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.89
- PolyPhen-2 0.14
- SIFT 0.19
- MutPred 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases; GRN-related frontotemporal lobar degene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)