I124T (p.Ile124Thr) variant of FERMT1 (Fermitin family homolog 1)
I124T (p.Ile124Thr) 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 0.69 / 1. The record also includes population frequency data and structural context.
I124T (p.Ile124Thr) variant details
- p.Ile124Thr
- rs760691296
- ClinGen CA9758485
- ClinVar RCV002009958
- ExAC rs760691296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.71
- CADD 27.10
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available