N23D (p.Asn23Asp) variant of ABCC8 (Q09428)
N23D (p.Asn23Asp) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N23D (p.Asn23Asp) variant details
- p.Asn23Asp
- ExAC rs774248683
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.32
- AlphaMissense 0.15
- MetaLR 0.75
- MetaSVM 0.34
- CADD 23.90
- PolyPhen-2 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available