I76T (p.Ile76Thr) variant of ATP6V0A4 (Q9HBG4)
I76T (p.Ile76Thr) in ATP6V0A4 (Q9HBG4) 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.
I76T (p.Ile76Thr) variant details
- p.Ile76Thr
- gnomAD rs1199544035
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.54
- MetaSVM -0.30
- CADD 22.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available