I52T (p.Ile52Thr) variant of FERMT1 (Fermitin family homolog 1)
I52T (p.Ile52Thr) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- ExAC rs771157754
- gnomAD rs771157754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- CADD 21.60
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available