P93Q (p.Pro93Gln) variant of ETFB (P38117)
P93Q (p.Pro93Gln) in ETFB (P38117) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P93Q (p.Pro93Gln) variant details
- p.Pro93Gln
- gnomAD 19-51353228-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available