S47P (p.Ser47Pro) variant of SLC40A1 (Ferroportin)
S47P (p.Ser47Pro) in SLC40A1 (Ferroportin) 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 0.73 / 1. The record also includes structural context.
S47P (p.Ser47Pro) variant details
- p.Ser47Pro
- rs1574245587
- ClinGen CA349989865
- ClinVar RCV001027529
- Ensembl rs1574245587
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available