L9H (p.Leu9His) variant of ATM (Serine-protein kinase ATM)
L9H (p.Leu9His) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
L9H (p.Leu9His) variant details
- p.Leu9His
- rs2135004729
- ClinGen CA382519041
- ClinVar RCV003326191
- Ensembl rs2135004729
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.48
- MetaLR 0.37
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available