N64S (p.Asn64Ser) variant of MCM5 (P33992)
N64S (p.Asn64Ser) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- gnomAD 22-35403230-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available