A9T (p.Ala9Thr) variant of ETFB (P38117)
A9T (p.Ala9Thr) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD rs1442687835
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available