N17K (p.Asn17Lys) variant of MCCC1 (Q96RQ3)
N17K (p.Asn17Lys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- 1000Genomes rs557695078
- ExAC rs557695078
- TOPMed rs557695078
- gnomAD rs557695078
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.27
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available