V30G (p.Val30Gly) variant of LCAT (P04180)
V30G (p.Val30Gly) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- ExAC rs750103024
- gnomAD rs750103024
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.78
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available