K132Q (p.Lys132Gln) variant of ATP6V0A4 (Q9HBG4)
K132Q (p.Lys132Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K132Q (p.Lys132Gln) variant details
- p.Lys132Gln
- gnomAD rs1308241730
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM 0.30
- CADD 23.80
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available