V53M (p.Val53Met) variant of ATP6V1B1 (P15313)
V53M (p.Val53Met) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs782734529
- ClinGen CA1700916
- ClinVar RCV002630086
- ExAC rs782734529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available