V120I (p.Val120Ile) variant of LCAT (P04180)
V120I (p.Val120Ile) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V120I (p.Val120Ile) variant details
- p.Val120Ile
- ExAC rs771607670
- gnomAD rs771607670
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available