N65S (p.Asn65Ser) variant of FOXA1 (P55317)
N65S (p.Asn65Ser) 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 0.33 / 1. The record also includes population frequency data.
N65S (p.Asn65Ser) variant details
- p.Asn65Ser
- rs200438155
- ClinGen CA7160204
- ClinVar RCV004392106
- 1000Genomes rs200438155
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.10
- CADD 25.70
- PolyPhen-2 0.55
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.059)