G40C (p.Gly40Cys) variant of FOXI1 (Forkhead box protein I1)
G40C (p.Gly40Cys) in FOXI1 (Forkhead box protein I1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G40C (p.Gly40Cys) variant details
- p.Gly40Cys
- gnomAD 5-170106075-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.32
- MetaLR 0.70
- MetaSVM 0.40
- CADD 22.10
- PolyPhen-2 0.34
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available