A2A (p.Ala2Ala) variant of SDHC (Q99643)
A2A (p.Ala2Ala) in SDHC (Q99643) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs775353334
- gnomAD 1-161314411-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available