P9S (p.Pro9Ser) variant of ATP6V1B1 (P15313)
P9S (p.Pro9Ser) in ATP6V1B1 (P15313) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- NCI-TCGA Cosmic COSV5226
- cosmic curated COSV52265
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.24
- CADD 3.46
- PolyPhen-2 0.00
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available