L46V (p.Leu46Val) variant of MCM2 (P49736)
L46V (p.Leu46Val) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- gnomAD 3-127599447-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.00
- PolyPhen-2 0.58
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available