I34N (p.Ile34Asn) variant of ATP6V1B1 (P15313)
I34N (p.Ile34Asn) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I34N (p.Ile34Asn) variant details
- p.Ile34Asn
- gnomAD 2-70936055-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available