N72D (p.Asn72Asp) variant of ABCC8 (Q09428)
N72D (p.Asn72Asp) in ABCC8 (Q09428) 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 0.70 / 1. The record also includes structural context.
N72D (p.Asn72Asp) variant details
- p.Asn72Asp
- rs2133728894
- ClinGen CA379787908
- ClinVar RCV001797879
- Ensembl rs2133728894
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.37
- MetaLR 0.89
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.27
- EVE 0.32
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in PNDM3)
- UniProt: Uncertain significance (in PNDM3)
- Structural context available