N143K (p.Asn143Lys) variant of ATP6V0A4 (Q9HBG4)
N143K (p.Asn143Lys) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N143K (p.Asn143Lys) variant details
- p.Asn143Lys
- NCI-TCGA TCGA novel
- TOPMed rs1806870605
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.47
- MetaSVM -0.55
- CADD 7.62
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available