S115P (p.Ser115Pro) variant of LCAT (P04180)
S115P (p.Ser115Pro) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S115P (p.Ser115Pro) variant details
- p.Ser115Pro
- rs1412883954
- UniProt VAR 039025
- gnomAD rs1412883954
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.72
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 0.88
- SIFT 0.04
- MutPred 0.16
- Structural context available
- Cited in: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular… (PMID 15994445)