S29L (p.Ser29Leu) variant of MCM5 (P33992)
S29L (p.Ser29Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- gnomAD 22-35400524-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available