S169I (p.Ser169Ile) variant of FERMT1 (Fermitin family homolog 1)
S169I (p.Ser169Ile) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S169I (p.Ser169Ile) variant details
- p.Ser169Ile
- gnomAD rs1346874528
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.01
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available