K104N (p.Lys104Asn) variant of NEB (Nebulin)
K104N (p.Lys104Asn) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
K104N (p.Lys104Asn) variant details
- p.Lys104Asn
- ExAC rs773017505
- gnomAD rs773017505
- Likely benign
- Missense
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.85
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)