P50S (p.Pro50Ser) variant of ATP6V1B1 (P15313)
P50S (p.Pro50Ser) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- Ensembl rs746617256
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.73
- CADD 24.50
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available