P79L (p.Pro79Leu) variant of FOXA1 (P55317)
P79L (p.Pro79Leu) 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 0.35 / 1. The record also includes population frequency data.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- NCI-TCGA TCGA novel
- gnomAD rs1387961059
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.20
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)