V531A (p.Val531Ala) variant of SLC40A1 (Ferroportin)
V531A (p.Val531Ala) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
V531A (p.Val531Ala) variant details
- p.Val531Ala
- rs2030755066
- ClinGen CA349986671
- ClinVar RCV001250717
- Ensembl rs2030755066
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.81
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available