N21D (p.Asn21Asp) variant of MCM2 (P49736)
N21D (p.Asn21Asp) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N21D (p.Asn21Asp) variant details
- p.Asn21Asp
- gnomAD rs1307579099
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.01
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available