P60L (p.Pro60Leu) variant of NEB (Nebulin)
P60L (p.Pro60Leu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- gnomAD rs1477707498
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.92
- CADD 18.40
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- NEB SH3 domain domainome 1.0: score -0.474