S16R (p.Ser16Arg) variant of ATP6V1B1 (P15313)
S16R (p.Ser16Arg) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- gnomAD rs1553415265
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.13
- CADD 5.95
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available