T3A (p.Thr3Ala) variant of GRN (Progranulin)
T3A (p.Thr3Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs2048347394
- ClinGen CA399758989
- ClinVar RCV001197111
- ClinVar RCV005348348
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)