T43T (p.Thr43Thr) variant of ETFDH (Q16134)
T43T (p.Thr43Thr) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T43T (p.Thr43Thr) variant details
- p.Thr43Thr
- gnomAD 4-158680561-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.68
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available