D6E (p.Asp6Glu) variant of ATP6V1B1 (P15313)
D6E (p.Asp6Glu) 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 0.23 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- rs2104795225
- ClinGen CA347176697
- ClinVar RCV002462724
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available