T21I (p.Thr21Ile) variant of SGCA (Alpha-sarcoglycan)
T21I (p.Thr21Ile) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs199804735
- ClinGen CA8643686
- ClinVar RCV000252821
- ClinVar RCV000726346
- Conflicting interpretations
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.26
- CADD 2.95
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)