V29I (p.Val29Ile) variant of FOXA1 (P55317)
V29I (p.Val29Ile) in FOXA1 (P55317) 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 0.36 / 1. The record also includes population frequency data.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- NCI-TCGA Cosmic COSV5164
- TOPMed rs2095597293
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.02
- CADD 23.50
- PolyPhen-2 0.54
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)