T31S (p.Thr31Ser) variant of ETFDH (Q16134)
T31S (p.Thr31Ser) in ETFDH (Q16134) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T31S (p.Thr31Ser) variant details
- p.Thr31Ser
- 1000Genomes rs182144074
- ExAC rs182144074
- TOPMed rs182144074
- gnomAD rs182144074
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.19
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Likely benign (in dbSNP:rs11559290)
- UniProt: Likely benign (in dbSNP:rs11559290)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available