N58K (p.Asn58Lys) variant of FOXA1 (P55317)
N58K (p.Asn58Lys) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- Ensembl rs2095597155
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- MetaLR 0.11
- MetaSVM -1.07
- CADD 24.70
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)