N18S (p.Asn18Ser) variant of ATP6V1B1 (P15313)
N18S (p.Asn18Ser) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- Ensembl rs1679841572
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.10
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available