N18H (p.Asn18His) variant of ATP6V1B1 (P15313)
N18H (p.Asn18His) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N18H (p.Asn18His) variant details
- p.Asn18His
- gnomAD 2-70936006-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.12
- CADD 7.34
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available