N21S (p.Asn21Ser) variant of MCM2 (P49736)
N21S (p.Asn21Ser) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- gnomAD 3-127599373-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.03
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available