S20T (p.Ser20Thr) variant of TMC1 (Q8TDI8)
S20T (p.Ser20Thr) in TMC1 (Q8TDI8) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- rs189479995
- ClinGen CA5081585
- ClinVar RCV001776583
- ClinVar RCV002544212
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.40
- PolyPhen-2 0.83
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)