S16T (p.Ser16Thr) variant of ATP6V1B1 (P15313)
S16T (p.Ser16Thr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- 1000Genomes rs552163310
- ExAC rs552163310
- gnomAD rs552163310
- Missense
- Variant Prioritization Score for Impact Estimate 0.0982
- REVEL 0.12
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available