G10R (p.Gly10Arg) variant of ALMS1 (Q8TCU4)
G10R (p.Gly10Arg) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD 2-73385896-G-C
- Missense
- MetaLR 0.05
- MetaSVM -1.06
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available