P39A (p.Pro39Ala) variant of FH (P07954)
P39A (p.Pro39Ala) 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 0.42 / 1. The record also includes population frequency data and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- Ensembl rs2147926857
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.41
- AlphaMissense 0.07
- MetaLR 0.90
- MetaSVM 0.61
- CADD 14.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available