S35P (p.Ser35Pro) variant of FH (P07954)
S35P (p.Ser35Pro) 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.
S35P (p.Ser35Pro) variant details
- p.Ser35Pro
- rs1573889890
- ClinGen CA345442700
- ClinVar RCV002534772
- Ensembl rs1573889890
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.06
- MetaLR 0.90
- MetaSVM 0.83
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available