I54I (p.Ile54Ile) variant of ATP6V1A (P38606)
I54I (p.Ile54Ile) in ATP6V1A (P38606) is a synonymous 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.
I54I (p.Ile54Ile) variant details
- p.Ile54Ile
- gnomAD 3-113781129-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available