A23V (p.Ala23Val) variant of LCAT (P04180)
A23V (p.Ala23Val) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- TOPMed rs1195448644
- gnomAD rs1195448644
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available