T3M (p.Thr3Met) variant of SMARCA2 (P51531)
T3M (p.Thr3Met) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T3M (p.Thr3Met) variant details
- p.Thr3Met
- rs1187602827
- ClinGen CA372778971
- ClinVar RCV002742350
- TOPMed rs1187602827
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.49
- AlphaMissense 0.46
- MetaLR 0.81
- MetaSVM 0.77
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-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)