P7S (p.Pro7Ser) variant of ALMS1 (Q8TCU4)
P7S (p.Pro7Ser) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- TOPMed rs1219519621
- gnomAD rs1219519621
- Missense
- MetaLR 0.12
- MetaSVM -1.04
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)