D19N (p.Asp19Asn) variant of FERMT1 (Fermitin family homolog 1)
D19N (p.Asp19Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- TOPMed rs1983205613
- gnomAD rs1983205613
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.18
- CADD 18.30
- PolyPhen-2 0.24
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available