R56S (p.Arg56Ser) variant of ETFDH (Q16134)
R56S (p.Arg56Ser) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- Ensembl rs917824297
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.77
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available