N44D (p.Asn44Asp) variant of LCAT (P04180)
N44D (p.Asn44Asp) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N44D (p.Asn44Asp) variant details
- p.Asn44Asp
- Ensembl rs2058312669
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.59
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.01
- Population evidence available
- Structural context available