P39R (p.Pro39Arg) variant of FH (P07954)
P39R (p.Pro39Arg) in FH (P07954) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- TOPMed rs1415259326
- gnomAD rs1415259326
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.42
- CADD 14.80
- PolyPhen-2 0.20
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available