A40P (p.Ala40Pro) variant of LCAT (P04180)
A40P (p.Ala40Pro) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
A40P (p.Ala40Pro) variant details
- p.Ala40Pro
- rs2544410688
- ClinGen CA396382618
- ClinVar RCV003339161
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.37
- CADD 25.00
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available