Y7C (p.Tyr7Cys) variant of NEB (Nebulin)
Y7C (p.Tyr7Cys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- cosmic curated COSV99429
- Missense
- REVEL 0.20
- MetaLR 0.06
- MetaSVM -1.15
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- NEB SH3 domain domainome 1.0: score 0.485