P9L (p.Pro9Leu) variant of ALMS1 (Q8TCU4)
P9L (p.Pro9Leu) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The record also includes variant effect predictions and population frequency data.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1297606865
- ClinGen CA347250417
- cosmic curated COSV52508
- ClinVar RCV004521784
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- MetaLR 0.12
- MetaSVM -0.82
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.6e-05)