P50L (p.Pro50Leu) variant of NEB (Nebulin)
P50L (p.Pro50Leu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- 1000Genomes rs1300745299
- TOPMed rs1300745299
- Missense
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.96
- CADD 24.40
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- NEB SH3 domain domainome 1.0: score -0.491