T36N (p.Thr36Asn) variant of ETFDH (Q16134)
T36N (p.Thr36Asn) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T36N (p.Thr36Asn) variant details
- p.Thr36Asn
- gnomAD 4-158680539-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.34
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available