V215I (p.Val215Ile) variant of ABCC8 (Q09428)
V215I (p.Val215Ile) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
V215I (p.Val215Ile) variant details
- p.Val215Ile
- rs2133680286
- ClinGen CA379778915
- NCI-TCGA Cosmic COSV5685
- ClinVar RCV002052022
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.25
- MetaLR 0.74
- MetaSVM 0.40
- PolyPhen-2 0.95
- SIFT 0.03
- EVE 0.69
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available