S122I (p.Ser122Ile) variant of FERMT1 (Fermitin family homolog 1)
S122I (p.Ser122Ile) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S122I (p.Ser122Ile) variant details
- p.Ser122Ile
- gnomAD rs1396098373
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available