N48K (p.Asn48Lys) variant of ATP6V1B1 (P15313)
N48K (p.Asn48Lys) in ATP6V1B1 (P15313) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- 1000Genomes rs144845223
- ESP rs144845223
- ExAC rs144845223
- TOPMed rs144845223
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.36
- CADD 7.28
- PolyPhen-2 0.04
- SIFT 0.14
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available