P9Q (p.Pro9Gln) variant of ALMS1 (Q8TCU4)
P9Q (p.Pro9Gln) in ALMS1 (Q8TCU4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD rs1297606865
- Uncertain significance
- Missense
- MetaLR 0.12
- MetaSVM -1.05
- CADD 24.20
- PolyPhen-2 0.90
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00023)