G10S (p.Gly10Ser) variant of ALMS1 (Q8TCU4)
G10S (p.Gly10Ser) in ALMS1 (Q8TCU4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs1045405319
- ClinGen CA50368628
- ClinVar RCV000665049
- TOPMed rs1045405319
- Uncertain significance
- Missense
- MetaLR 0.02
- MetaSVM -1.02
- CADD 23.00
- PolyPhen-2 0.95
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.1e-05)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)