P3L (p.Pro3Leu) variant of ALMS1 (Q8TCU4)
P3L (p.Pro3Leu) 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 specified; Alstrom syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs914898490
- ClinGen CA50368580
- ClinVar RCV001293515
- ClinVar RCV001359484
- Uncertain significance
- Cardiovascular phenotype; not specified; Alstrom syndrome
- Missense
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Alstrom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)