A69T (p.Ala69Thr) variant of ETFB (P38117)
A69T (p.Ala69Thr) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD rs1312209145
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.17
- CADD 7.80
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available