W81* (p.Trp81Ter) variant of SLC4A1 (Band 3 anion transport protein)
W81* (p.Trp81Ter) in SLC4A1 (Band 3 anion transport protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W81* (p.Trp81Ter) variant details
- p.Trp81Ter
- rs1598302037
- ClinGen CA399796273
- ClinVar RCV001002044
- Ensembl rs1598302037
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available