L20L (p.Leu20Leu) variant of SDHD (O14521)
L20L (p.Leu20Leu) in SDHD (O14521) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs1298878168
- gnomAD 11-112087862-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.13
- MetaLR 0.62
- MetaSVM -0.11
- CADD 9.35
- PolyPhen-2 0.47
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available