I160L (p.Ile160Leu) variant of FERMT1 (Fermitin family homolog 1)
I160L (p.Ile160Leu) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I160L (p.Ile160Leu) variant details
- p.Ile160Leu
- 1000Genomes rs202137913
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.12
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available