M96I (p.Met96Ile) variant of FERMT1 (Fermitin family homolog 1)
M96I (p.Met96Ile) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M96I (p.Met96Ile) variant details
- p.Met96Ile
- rs184921922
- ClinGen CA9758499
- ClinVar RCV002036943
- 1000Genomes rs184921922
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.03
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available