L130V (p.Leu130Val) variant of ATP6V0A4 (Q9HBG4)
L130V (p.Leu130Val) 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.
L130V (p.Leu130Val) variant details
- p.Leu130Val
- rs758193098
- ExAC rs758193098
- gnomAD rs758193098
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.25
- MetaSVM -0.47
- PolyPhen-2 0.81
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available