K30R (p.Lys30Arg) variant of NEB (Nebulin)
K30R (p.Lys30Arg) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- gnomAD rs1559689542
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.90
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the 1KG:MSL population (allele frequency 0.013)
- NEB SH3 domain domainome 1.0: score -0.208