R3606W (p.Arg3606Trp) variant of ALMS1 (Q8TCU4)
R3606W (p.Arg3606Trp) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leber congenital amaurosis; Alstrom syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
R3606W (p.Arg3606Trp) variant details
- p.Arg3606Trp
- rs1250097723
- ClinGen CA347285669
- ClinVar RCV001591899
- ClinVar RCV001866158
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis; Alstrom syndrome
- Missense
- CADD 25.40
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis; Alstrom syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)