I161N (p.Ile161Asn) variant of FERMT1 (Fermitin family homolog 1)
I161N (p.Ile161Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
I161N (p.Ile161Asn) variant details
- p.Ile161Asn
- rs185559251
- NCI-TCGA Cosmic COSV9945
- 1000Genomes rs185559251
- ExAC rs185559251
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0918
- REVEL 0.02
- CADD 15.90
- PolyPhen-2 0.09
- SIFT 0.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available