K104T (p.Lys104Thr) variant of NEB (Nebulin)
K104T (p.Lys104Thr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions and population frequency data.
K104T (p.Lys104Thr) variant details
- p.Lys104Thr
- rs994980701
- ClinGen CA57651781
- cosmic curated COSV51367
- ClinVar RCV003131739
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.06
- CADD 20.50
- PolyPhen-2 0.15
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)