M28I (p.Met28Ile) variant of TECTA (Alpha-tectorin)
M28I (p.Met28Ile) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- rs2496886043
- ClinGen CA383019905
- ClinVar RCV003364871
- ClinVar RCV004697287
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.05
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)