T3I (p.Thr3Ile) variant of GRN (Progranulin)
T3I (p.Thr3Ile) 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; Neuronal ceroid lipofuscinosis 11; GRN-related frontote. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- rs375939802
- ClinGen CA8601728
- ClinVar RCV003284827
- ClinVar RCV003779907
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11; GRN-related frontote
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.09
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.89
- CADD 10.10
- PolyPhen-2 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11; GRN-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- 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)