T23I (p.Thr23Ile) variant of IAPP (Islet amyloid polypeptide)
T23I (p.Thr23Ile) in IAPP (Islet amyloid polypeptide) 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 0.28 / 1. The record also includes population frequency data and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- Ensembl rs1939945928
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available