F146S (p.Phe146Ser) variant of FERMT1 (Fermitin family homolog 1)
F146S (p.Phe146Ser) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F146S (p.Phe146Ser) variant details
- p.Phe146Ser
- TOPMed rs1304468847
- gnomAD rs1304468847
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available