N116S (p.Asn116Ser) variant of LCAT (P04180)
N116S (p.Asn116Ser) 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 0.58 / 1. The record also includes population frequency data and structural context.
N116S (p.Asn116Ser) variant details
- p.Asn116Ser
- rs771517943
- ExAC rs771517943
- TOPMed rs771517943
- gnomAD rs771517943
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.55
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available