Y33N (p.Tyr33Asn) variant of ATP6V1B1 (P15313)
Y33N (p.Tyr33Asn) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y33N (p.Tyr33Asn) variant details
- p.Tyr33Asn
- gnomAD 2-70936051-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.79
- CADD 26.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available