Q30E (p.Gln30Glu) variant of MCM5 (P33992)
Q30E (p.Gln30Glu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q30E (p.Gln30Glu) variant details
- p.Gln30Glu
- cosmic curated COSV99332
- gnomAD rs1932010519
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available