G20A (p.Gly20Ala) variant of ATP6V1B1 (P15313)
G20A (p.Gly20Ala) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- cosmic curated COSV99313
- TOPMed rs1418218970
- gnomAD rs1418218970
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.21
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -0.98
- CADD 3.91
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available