T40T (p.Thr40Thr) variant of ATP6V1B1 (P15313)
T40T (p.Thr40Thr) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T40T (p.Thr40Thr) variant details
- p.Thr40Thr
- gnomAD 2-70943659-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 13.60
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available