N172D (p.Asn172Asp) variant of SLC40A1 (Ferroportin)
N172D (p.Asn172Asp) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N172D (p.Asn172Asp) variant details
- p.Asn172Asp
- gnomAD rs1169808129
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available