P3Q (p.Pro3Gln) variant of LCAT (P04180)
P3Q (p.Pro3Gln) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- ExAC rs753021814
- TOPMed rs753021814
- gnomAD rs753021814
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.24
- CADD 0.02
- PolyPhen-2 0.02
- SIFT 0.37
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available