V39I (p.Val39Ile) variant of FERMT1 (Fermitin family homolog 1)
V39I (p.Val39Ile) 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.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs749427526
- ExAC rs749427526
- TOPMed rs749427526
- gnomAD rs749427526
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0915
- REVEL 0.10
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available