M1L (p.Met1Leu) variant of ALMS1 (Q8TCU4)
M1L (p.Met1Leu) 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 and published literature.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1429891881
- ClinGen CA347250315
- ClinVar RCV002612294
- Likely pathogenic
- Alstrom syndrome
- Missense
- MetaLR 0.12
- MetaSVM -0.98
- PolyPhen-2 0.99
- MutPred 0.99
- ClinVar: Likely pathogenic (Alstrom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)