K30N (p.Lys30Asn) variant of NEB (Nebulin)
K30N (p.Lys30Asn) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD rs1219424825
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.90
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- NEB SH3 domain domainome 1.0: score -0.208