P38S (p.Pro38Ser) variant of FH (P07954)
P38S (p.Pro38Ser) 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.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- rs2147926866
- ClinGen CA345442663
- ClinVar RCV002730208
- Ensembl rs2147926866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.06
- MetaLR 0.87
- MetaSVM 0.89
- PolyPhen-2 0.00
- SIFT 0.68
- MutPred 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available