M50R (p.Met50Arg) variant of FOXA1 (P55317)
M50R (p.Met50Arg) 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 0.42 / 1. The record also includes population frequency data.
M50R (p.Met50Arg) variant details
- p.Met50Arg
- rs760082238
- ClinGen CA7160214
- ClinVar RCV004228129
- ExAC rs760082238
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- MetaLR 0.13
- MetaSVM -1.13
- CADD 27.70
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)