G2V (p.Gly2Val) variant of LCAT (P04180)
G2V (p.Gly2Val) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- Ensembl rs2058314435
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available