P65L (p.Pro65Leu) variant of NEB (Nebulin)
P65L (p.Pro65Leu) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- rs375909006
- ClinGen CA1911976
- ClinVar RCV000214047
- ClinVar RCV000558344
- Uncertain significance
- Missense
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -0.98
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)