T42M (p.Thr42Met) variant of IAPP (Islet amyloid polypeptide)
T42M (p.Thr42Met) in IAPP (Islet amyloid polypeptide) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T42M (p.Thr42Met) variant details
- p.Thr42Met
- rs761079012
- NCI-TCGA Cosmic COSV5371
- cosmic curated COSV53714
- ExAC rs761079012
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- CADD 9.11
- PolyPhen-2 0.29
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available