N43S (p.Asn43Ser) variant of ATP6V0A4 (Q9HBG4)
N43S (p.Asn43Ser) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- ExAC rs746859295
- gnomAD rs746859295
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.26
- MetaSVM -0.87
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available