F3I (p.Phe3Ile) variant of ATP6V1A (P38606)
F3I (p.Phe3Ile) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F3I (p.Phe3Ile) variant details
- p.Phe3Ile
- gnomAD rs1228715612
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.32
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available