T52A (p.Thr52Ala) variant of MCM5 (P33992)
T52A (p.Thr52Ala) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- TOPMed rs954865384
- gnomAD rs954865384
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available