S24W (p.Ser24Trp) variant of FH (P07954)
S24W (p.Ser24Trp) in FH (P07954) is a missense change. The available record places it in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
S24W (p.Ser24Trp) variant details
- p.Ser24Trp
- rs587778361
- ClinGen CA159737
- ClinVar RCV000121089
- Ensembl rs587778361
- not provided
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.19
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 0.73
- SIFT 0.07
- MutPred 0.31
- ClinVar: not provided (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available