G76R (p.Gly76Arg) variant of FOXA1 (P55317)
G76R (p.Gly76Arg) in FOXA1 (P55317) is a missense change. Clinical records from ClinVar, EBI, 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 0.43 / 1. The record also includes population frequency data.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- rs368989227
- ClinGen CA7160196
- ClinVar RCV004187931
- ESP rs368989227
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.31
- MetaLR 0.15
- MetaSVM -0.82
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)