T44P (p.Thr44Pro) variant of NPC2 (P61916)
T44P (p.Thr44Pro) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
T44P (p.Thr44Pro) variant details
- p.Thr44Pro
- rs2139670146
- ClinGen CA390532760
- ClinVar RCV002381044
- Ensembl rs2139670146
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- ESM-1b 0.68
- AlphaMissense 0.31
- MetaLR 0.70
- MetaSVM -0.25
- PolyPhen-2 0.79
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)