D55N (p.Asp55Asn) variant of ATP6V1B1 (P15313)
D55N (p.Asp55Asn) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- gnomAD 2-70943702-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.45
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available