I5M (p.Ile5Met) variant of ATP6V1B1 (P15313)
I5M (p.Ile5Met) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- NCI-TCGA Cosmic COSV9931
- cosmic curated COSV99313
- Uncertain significance
- Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.20
- CADD 20.10
- ClinVar: Uncertain significance (Renal tubular acidosis with progressive nerve deafness)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available