A30A (p.Ala30Ala) variant of ETFDH (Q16134)
A30A (p.Ala30Ala) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs1773825695
- gnomAD 4-158680522-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.60
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available