D5N (p.Asp5Asn) variant of FOXI1 (Forkhead box protein I1)
D5N (p.Asp5Asn) in FOXI1 (Forkhead box protein I1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs779571186
- NCI-TCGA Cosmic COSV6038
- cosmic curated COSV60388
- ExAC rs779571186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available