P24L (p.Pro24Leu) variant of NEB (Nebulin)
P24L (p.Pro24Leu) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs185496567
- ClinGen CA1912014
- ClinVar RCV000544716
- ClinVar RCV003139774
- Benign
- Missense
- REVEL 0.17
- AlphaMissense 0.18
- MetaLR 0.04
- MetaSVM -1.07
- CADD 28.10
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- NEB SH3 domain domainome 1.0: score -0.164
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)