V69L (p.Val69Leu) variant of LCAT (P04180)
V69L (p.Val69Leu) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- ExAC rs772109225
- gnomAD rs772109225
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.34
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available