L18P (p.Leu18Pro) variant of SDHA (P31040)
L18P (p.Leu18Pro) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs1560980939
- gnomAD 5-218395-C-CGGCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available