L18M (p.Leu18Met) variant of SDHA (P31040)
L18M (p.Leu18Met) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1GG. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- rs1553996372
- ClinVar RCV004573567
- Uncertain significance
- Dilated cardiomyopathy 1GG
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.17
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.74
- CADD 19.70
- PolyPhen-2 0.46
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1GG)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available