A23S (p.Ala23Ser) variant of INS (Insulin)
A23S (p.Ala23Ser) in INS (Insulin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- cosmic curated COSV51747
- 1000Genomes rs13306444
- ExAC rs13306444
- TOPMed rs13306444
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 20.90
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available