V2G (p.Val2Gly) variant of ATP6V0A4 (Q9HBG4)
V2G (p.Val2Gly) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V2G (p.Val2Gly) variant details
- p.Val2Gly
- 1000Genomes rs10258719
- ESP rs10258719
- ExAC rs10258719
- TOPMed rs10258719
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.09
- MetaSVM -0.85
- CADD 15.50
- EBI: Benign (in dbSNP:rs10258719)
- UniProt: Benign (in dbSNP:rs10258719)
- Population evidence available
- Structural context available