T107S (p.Thr107Ser) variant of DMD (Dystrophin)
T107S (p.Thr107Ser) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T107S (p.Thr107Ser) variant details
- p.Thr107Ser
- rs2524458482
- ClinGen CA412674492
- ClinVar RCV003993419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.87
- MetaLR 0.94
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available