A45V (p.Ala45Val) variant of SLC40A1 (Ferroportin)
A45V (p.Ala45Val) in SLC40A1 (Ferroportin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs752405201
- NCI-TCGA Cosmic COSV5372
- ExAC rs752405201
- gnomAD rs752405201
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.76
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available