S43N (p.Ser43Asn) variant of LCAT (P04180)
S43N (p.Ser43Asn) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- 1000Genomes rs143128684
- ExAC rs143128684
- gnomAD rs143128684
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available