S37T (p.Ser37Thr) variant of ETFDH (Q16134)
S37T (p.Ser37Thr) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S37T (p.Ser37Thr) variant details
- p.Ser37Thr
- gnomAD rs1773826833
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.42
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available