D39N (p.Asp39Asn) variant of ATP6V0A4 (Q9HBG4)
D39N (p.Asp39Asn) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- cosmic curated COSV59481
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.88
- MetaSVM 0.98
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available