N32S (p.Asn32Ser) variant of ABCC8 (Q09428)
N32S (p.Asn32Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- rs1848801744
- ClinGen CA379790013
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56847
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.60
- CADD 23.40
- PolyPhen-2 0.35
- SIFT 0.12
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available