S112T (p.Ser112Thr) variant of FERMT1 (Fermitin family homolog 1)
S112T (p.Ser112Thr) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S112T (p.Ser112Thr) variant details
- p.Ser112Thr
- gnomAD rs1243546070
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available