N48N (p.Asn48Asn) variant of ATP6V1B1 (P15313)
N48N (p.Asn48Asn) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
N48N (p.Asn48Asn) variant details
- p.Asn48Asn
- rs144845223
- gnomAD 2-70943683-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0938
- CADD 1.86
- Most common in the HGDP:YORUBA population (allele frequency 0.095)
- Structural context available
- Literature evidence available