D6A (p.Asp6Ala) variant of ATP6V1B1 (P15313)
D6A (p.Asp6Ala) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D6A (p.Asp6Ala) variant details
- p.Asp6Ala
- gnomAD 2-70935968-TAGAC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available