W8R (p.Trp8Arg) variant of ALMS1 (Q8TCU4)
W8R (p.Trp8Arg) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alstrom syndrome. The record also includes variant effect predictions and population frequency data.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- gnomAD rs1348138067
- Uncertain significance
- Alstrom syndrome
- Missense
- MetaLR 0.07
- MetaSVM -1.12
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Alstrom syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.1e-05)