T38I (p.Thr38Ile) variant of ETFDH (Q16134)
T38I (p.Thr38Ile) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- gnomAD 4-158680545-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.27
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available