V29F (p.Val29Phe) variant of ATP6V1B1 (P15313)
V29F (p.Val29Phe) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V29F (p.Val29Phe) variant details
- p.Val29Phe
- gnomAD rs1553415284
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.69
- CADD 23.10
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available