A51V (p.Ala51Val) variant of NEB (Nebulin)
A51V (p.Ala51Val) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- cosmic curated COSV50835
- ExAC rs773813211
- TOPMed rs773813211
- gnomAD rs773813211
- Missense
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -1.03
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- NEB SH3 domain domainome 1.0: score -0.699