A53V (p.Ala53Val) variant of NEB (Nebulin)
A53V (p.Ala53Val) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- TOPMed rs1167702795
- gnomAD rs1167702795
- Missense
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.96
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- NEB SH3 domain domainome 1.0: score -0.544