Q9P (p.Gln9Pro) variant of LCAT (P04180)
Q9P (p.Gln9Pro) in LCAT (P04180) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q9P (p.Gln9Pro) variant details
- p.Gln9Pro
- TOPMed rs1297313253
- gnomAD rs1297313253
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.53
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available