A37V (p.Ala37Val) variant of MCM2 (P49736)
A37V (p.Ala37Val) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- TOPMed rs1055207216
- gnomAD rs1055207216
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.22
- MetaLR 0.08
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available