N23H (p.Asn23His) variant of ABCC8 (Q09428)
N23H (p.Asn23His) 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 0.55 / 1. The record also includes structural context.
N23H (p.Asn23His) variant details
- p.Asn23His
- rs774248683
- ClinGen CA379790082
- ClinVar RCV003665579
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.15
- MetaLR 0.75
- MetaSVM 0.34
- PolyPhen-2 0.10
- SIFT 0.23
- EVE 0.25
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available