P61L (p.Pro61Leu) variant of FOXA1 (P55317)
P61L (p.Pro61Leu) 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 0.42 / 1. The record also includes population frequency data.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- ExAC rs201436632
- gnomAD rs201436632
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.24
- MetaLR 0.64
- MetaSVM -0.75
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)