L72S (p.Leu72Ser) variant of MRE11 (P49959)
L72S (p.Leu72Ser) in MRE11 (P49959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L72S (p.Leu72Ser) variant details
- p.Leu72Ser
- ExAC rs747252386
- gnomAD rs747252386
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.92
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available