R25T (p.Arg25Thr) variant of TECTA (Alpha-tectorin)
R25T (p.Arg25Thr) in TECTA (Alpha-tectorin) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R25T (p.Arg25Thr) variant details
- p.Arg25Thr
- rs559306344
- ClinGen CA6326419
- ClinVar RCV003261633
- 1000Genomes rs559306344
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.03
- CADD 20.10
- PolyPhen-2 0.02
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)