H1155Y (p.His1155Tyr) variant of ALMS1 (Q8TCU4)
H1155Y (p.His1155Tyr) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alstrom syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
H1155Y (p.His1155Tyr) variant details
- p.His1155Tyr
- rs2103779035
- ClinGen CA347275706
- ClinVar RCV001808222
- Ensembl rs2103779035
- Likely pathogenic
- Alstrom syndrome
- Missense
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely pathogenic (Alstrom syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)