A2S (p.Ala2Ser) variant of NEB (Nebulin)
A2S (p.Ala2Ser) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- cosmic curated COSV99425
- ExAC rs771426165
- gnomAD rs771426165
- Missense
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.13
- CADD 25.80
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- NEB SH3 domain domainome 1.0: score -0.164