T61I (p.Thr61Ile) variant of SGCA (Alpha-sarcoglycan)
T61I (p.Thr61Ile) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
T61I (p.Thr61Ile) variant details
- p.Thr61Ile
- TOPMed rs1905020608
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.75
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available