A94A (p.Ala94Ala) variant of ETFB (P38117)
A94A (p.Ala94Ala) in ETFB (P38117) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A94A (p.Ala94Ala) variant details
- p.Ala94Ala
- rs529873909
- gnomAD 19-51353225-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.65
- Most common in the 1KG:STU population (allele frequency 0.02)
- Structural context available
- Literature evidence available