K64T (p.Lys64Thr) variant of DMD (Dystrophin)
K64T (p.Lys64Thr) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K64T (p.Lys64Thr) variant details
- p.Lys64Thr
- rs1482045034
- ClinGen CA412674789
- ClinVar RCV001364835
- ClinVar RCV001826033
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.74
- MetaLR 0.90
- MetaSVM 1.00
- CADD 25.10
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)