M109T (p.Met109Thr) variant of COL6A3 (Collagen alpha-3(VI) chain)
M109T (p.Met109Thr) in COL6A3 (Collagen alpha-3(VI) chain) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M109T (p.Met109Thr) variant details
- p.Met109Thr
- rs2469974061
- ClinGen CA351227514
- ClinVar RCV003304634
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.76
- MetaLR 0.38
- MetaSVM -0.45
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)