V63A (p.Val63Ala) variant of SLC40A1 (Ferroportin)
V63A (p.Val63Ala) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- rs2105631709
- ClinGen CA349989761
- ClinVar RCV001420124
- Ensembl rs2105631709
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.57
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.21
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available