E95A (p.Glu95Ala) variant of ETFB (P38117)
E95A (p.Glu95Ala) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E95A (p.Glu95Ala) variant details
- p.Glu95Ala
- gnomAD 19-51353223-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available