A6P (p.Ala6Pro) variant of ETFDH (Q16134)
A6P (p.Ala6Pro) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- ExAC rs770883274
- gnomAD rs770883274
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.14
- CADD 16.70
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available