K28N (p.Lys28Asn) variant of MCM5 (P33992)
K28N (p.Lys28Asn) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- gnomAD 22-35400521-AATCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available