N113S (p.Asn113Ser) variant of DMD (Dystrophin)
N113S (p.Asn113Ser) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
N113S (p.Asn113Ser) variant details
- p.Asn113Ser
- rs1557058336
- ClinGen CA412674452
- ClinVar RCV000603807
- Ensembl rs1557058336
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.13
- MetaLR 0.42
- MetaSVM -0.32
- PolyPhen-2 0.07
- SIFT 1.00
- MutPred 0.64
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available