L14L (p.Leu14Leu) variant of SDHC (Q99643)
L14L (p.Leu14Leu) in SDHC (Q99643) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs1331533952
- gnomAD 1-161323635-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 4.64
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available