G10C (p.Gly10Cys) variant of ALMS1 (Q8TCU4)
G10C (p.Gly10Cys) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 2-73385896-G-T
- Missense
- MetaLR 0.06
- MetaSVM -1.06
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available