N32T (p.Asn32Thr) variant of ATP6V1B1 (P15313)
N32T (p.Asn32Thr) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N32T (p.Asn32Thr) variant details
- p.Asn32Thr
- gnomAD 2-70936046-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available