T124S (p.Thr124Ser) variant of SHANK1 (Q9Y566)
T124S (p.Thr124Ser) in SHANK1 (Q9Y566) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T124S (p.Thr124Ser) variant details
- p.Thr124Ser
- rs751125503
- ClinGen CA9602182
- ClinVar RCV002595275
- ClinVar RCV004961083
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-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)