M10T (p.Met10Thr) variant of ATP6V0A4 (Q9HBG4)
M10T (p.Met10Thr) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
M10T (p.Met10Thr) variant details
- p.Met10Thr
- ExAC rs758730888
- TOPMed rs758730888
- gnomAD rs758730888
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.05
- CADD 25.50
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available