T43P (p.Thr43Pro) variant of ATP6V1B1 (P15313)
T43P (p.Thr43Pro) in ATP6V1B1 (P15313) is a missense 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.
T43P (p.Thr43Pro) variant details
- p.Thr43Pro
- gnomAD 2-70943666-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.80
- CADD 25.00
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available