L7L (p.Leu7Leu) variant of SDHA (P31040)
L7L (p.Leu7Leu) in SDHA (P31040) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs760964443
- gnomAD 5-218374-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -0.99
- CADD 6.84
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available