P9S (p.Pro9Ser) variant of ALMS1 (Q8TCU4)
P9S (p.Pro9Ser) 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.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs769538172
- ClinGen CA1712721
- ClinVar RCV000794450
- ClinVar RCV002424808
- Uncertain significance
- Missense
- MetaLR 0.12
- MetaSVM -1.05
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.043)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)