Y67C (p.Tyr67Cys) variant of ATP6V1A (P38606)
Y67C (p.Tyr67Cys) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Y67C (p.Tyr67Cys) variant details
- p.Tyr67Cys
- TOPMed rs1394292766
- gnomAD rs1394292766
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available