P50P (p.Pro50Pro) variant of ATP6V1B1 (P15313)
P50P (p.Pro50Pro) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P50P (p.Pro50Pro) variant details
- p.Pro50Pro
- gnomAD 2-70943689-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 6.50
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available