N32S (p.Asn32Ser) variant of ATP6V1B1 (P15313)
N32S (p.Asn32Ser) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- gnomAD rs1553415290
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available