A96G (p.Ala96Gly) variant of ETFB (P38117)
A96G (p.Ala96Gly) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A96G (p.Ala96Gly) variant details
- p.Ala96Gly
- TOPMed rs972043546
- gnomAD rs972043546
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- CADD 20.20
- PolyPhen-2 0.18
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available