M50V (p.Met50Val) variant of FOXA1 (P55317)
M50V (p.Met50Val) 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 0.34 / 1. The record also includes population frequency data.
M50V (p.Met50Val) variant details
- p.Met50Val
- rs140306561
- ClinGen CA7160215
- ClinVar RCV004167642
- ESP rs140306561
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.20
- MetaLR 0.07
- MetaSVM -1.10
- CADD 22.70
- PolyPhen-2 0.24
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)