L88F (p.Leu88Phe) variant of LCAT (P04180)
L88F (p.Leu88Phe) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L88F (p.Leu88Phe) variant details
- p.Leu88Phe
- ExAC rs752387253
- gnomAD rs752387253
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available