N105D (p.Asn105Asp) variant of TTN (Titin)
N105D (p.Asn105Asp) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
N105D (p.Asn105Asp) variant details
- p.Asn105Asp
- rs780972429
- ClinVar RCV004560491
- ExAC rs780972429
- TOPMed rs780972429
- Uncertain significance
- Missense
- AlphaMissense 0.20
- MetaLR 0.36
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.37
- MutPred 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Udd Distal Myopathy – Tibial Muscular Dystrophy. (PMID 20301498)