T49A (p.Thr49Ala) variant of MCM5 (P33992)
T49A (p.Thr49Ala) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- TOPMed rs1932013952
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.10
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available