A83T (p.Ala83Thr) variant of FOXA1 (P55317)
A83T (p.Ala83Thr) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- rs7144658
- UniProt VAR 013457
- 1000Genomes rs7144658
- ESP rs7144658
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.03
- MetaLR 0.00
- MetaSVM -1.03
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Cited in: The human HNF-3 genes: cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis. (PMID 10899756)