T20P (p.Thr20Pro) variant of GABRA1 (P14867)
T20P (p.Thr20Pro) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
T20P (p.Thr20Pro) variant details
- p.Thr20Pro
- rs2113294023
- ClinGen CA362181198
- ClinVar RCV001752207
- ClinVar RCV005841833
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.97
- PolyPhen-2 0.04
- SIFT 0.17
- MutPred 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)