H273L (p.His273Leu) variant of SMN1 (Survival motor neuron protein)
H273L (p.His273Leu) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
H273L (p.His273Leu) variant details
- p.His273Leu
- rs1554082114
- Ensembl rs1554082114
- ClinGen CA360097259
- ClinVar RCV000516182
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.88
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available