M1R (p.Met1Arg) variant of ALMS1 (Q8TCU4)
M1R (p.Met1Arg) in ALMS1 (Q8TCU4) is a missense change. Clinical records from UniProt describe it as alstrom syndrome. The record also includes variant effect predictions and published literature.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1553396091
- ClinGen CA347250323
- ClinVar RCV000666768
- Alstrom syndrome
- Missense
- MetaLR 0.12
- MetaSVM -0.97
- PolyPhen-2 1.00
- MutPred 0.97
- UniProt: Alstrom syndrome
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)