V33I (p.Val33Ile) variant of FERMT1 (Fermitin family homolog 1)
V33I (p.Val33Ile) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- gnomAD rs1230189322
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.32
- CADD 24.40
- PolyPhen-2 0.49
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available