K70N (p.Lys70Asn) variant of MCCC1 (Q96RQ3)
K70N (p.Lys70Asn) in MCCC1 (Q96RQ3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K70N (p.Lys70Asn) variant details
- p.Lys70Asn
- 1000Genomes rs550313698
- ExAC rs550313698
- gnomAD rs550313698
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.37
- SIFT 0.02
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available