P98L (p.Pro98Leu) variant of NEB (Nebulin)
P98L (p.Pro98Leu) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
P98L (p.Pro98Leu) variant details
- p.Pro98Leu
- rs201473194
- ClinGen CA1911961
- ClinVar RCV000873976
- ClinVar RCV003226987
- Likely benign
- Missense
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.07
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)