R13K (p.Arg13Lys) variant of DMD (Dystrophin)
R13K (p.Arg13Lys) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- rs587780918
- ClinGen CA290627
- ClinVar RCV000124717
- ClinVar RCV005614382
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.26
- MetaLR 0.89
- MetaSVM 0.90
- PolyPhen-2 0.88
- SIFT 0.07
- MutPred 0.57
- EBI: Benign
- UniProt: Benign
- Structural context available