L46V (p.Leu46Val) variant of MRE11 (P49959)
L46V (p.Leu46Val) in MRE11 (P49959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- gnomAD rs1947264400
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.28
- CADD 22.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available