P60T (p.Pro60Thr) variant of NEB (Nebulin)
P60T (p.Pro60Thr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes experimental measurements.
P60T (p.Pro60Thr) variant details
- p.Pro60Thr
- rs2552280321
- ClinGen CA348795301
- ClinVar RCV003132953
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- NEB SH3 domain domainome 1.0: score -0.474