L6Q (p.Leu6Gln) variant of ATP6V1A (P38606)
L6Q (p.Leu6Gln) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD rs1269786889
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.66
- CADD 24.70
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available