N29S (p.Asn29Ser) variant of LCAT (P04180)
N29S (p.Asn29Ser) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- TOPMed rs1253171555
- gnomAD rs1253171555
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available