P34R (p.Pro34Arg) variant of LCAT (P04180)
P34R (p.Pro34Arg) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD rs121908051
- Pathogenic
- in FED
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available