S23Y (p.Ser23Tyr) variant of SLC40A1 (Ferroportin)
S23Y (p.Ser23Tyr) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S23Y (p.Ser23Tyr) variant details
- p.Ser23Tyr
- gnomAD rs1251688835
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available