L4L (p.Leu4Leu) variant of SDHC (Q99643)
L4L (p.Leu4Leu) in SDHC (Q99643) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs770796603
- gnomAD 1-161314415-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.08
- MetaLR 0.65
- MetaSVM -0.07
- CADD 9.03
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available