P4S (p.Pro4Ser) variant of ETFDH (Q16134)
P4S (p.Pro4Ser) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- TOPMed rs1237187624
- gnomAD rs1237187624
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.28
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available