T20A (p.Thr20Ala) variant of DMD (Dystrophin)
T20A (p.Thr20Ala) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- ExAC rs774357500
- gnomAD rs774357500
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.82
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.03
- CADD 24.70
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available