T38A (p.Thr38Ala) variant of ETFDH (Q16134)
T38A (p.Thr38Ala) 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 and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- Ensembl rs2150304376
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.25
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available