P39S (p.Pro39Ser) variant of FH (P07954)
P39S (p.Pro39Ser) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- rs2147926857
- ClinGen CA345442657
- ClinVar RCV002545744
- Ensembl rs2147926857
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.07
- MetaLR 0.90
- MetaSVM 0.61
- PolyPhen-2 0.00
- SIFT 0.70
- MutPred 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available