N51D (p.Asn51Asp) variant of FERMT1 (Fermitin family homolog 1)
N51D (p.Asn51Asp) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N51D (p.Asn51Asp) variant details
- p.Asn51Asp
- gnomAD rs1983200946
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.06
- CADD 18.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available