P3S (p.Pro3Ser) variant of ALMS1 (Q8TCU4)
P3S (p.Pro3Ser) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alstrom syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs1053425100
- ClinGen CA50368574
- ClinVar RCV003083875
- TOPMed rs1053425100
- Uncertain significance
- Alstrom syndrome
- Missense
- MetaLR 0.12
- MetaSVM -1.05
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Alstrom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)