M59V (p.Met59Val) variant of FOXA1 (P55317)
M59V (p.Met59Val) in FOXA1 (P55317) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
M59V (p.Met59Val) variant details
- p.Met59Val
- TOPMed rs1208394972
- gnomAD rs1208394972
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.31
- MetaLR 0.67
- MetaSVM -0.19
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00039)