T30I (p.Thr30Ile) variant of ATP6V1A (P38606)
T30I (p.Thr30Ile) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- TOPMed rs1404147770
- gnomAD rs1404147770
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available