A2D (p.Ala2Asp) variant of ATP6V1B1 (P15313)
A2D (p.Ala2Asp) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- rs876657744
- ClinGen CA10577204
- ClinVar RCV000219935
- ClinVar RCV001833188
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)