D28N (p.Asp28Asn) variant of FERMT1 (Fermitin family homolog 1)
D28N (p.Asp28Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- gnomAD rs1237497475
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- CADD 16.60
- PolyPhen-2 0.10
- SIFT 0.11
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available