A3A (p.Ala3Ala) variant of SDHC (Q99643)
A3A (p.Ala3Ala) in SDHC (Q99643) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs749265569
- gnomAD 1-161314414-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 13.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available