P62L (p.Pro62Leu) variant of MCM2 (P49736)
P62L (p.Pro62Leu) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- gnomAD 3-127599496-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -1.06
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available