T31del (p.Thr31del) variant of ETFDH (Q16134)
T31del (p.Thr31del) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T31del (p.Thr31del) variant details
- gnomAD 4-158680522-TACA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 18.60
- Population evidence available
- Structural context available
- Literature evidence available