N23K (p.Asn23Lys) variant of ABCC8 (Q09428)
N23K (p.Asn23Lys) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N23K (p.Asn23Lys) variant details
- p.Asn23Lys
- TOPMed rs1022337682
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available