Y76C (p.Tyr76Cys) variant of VPS35 (Q96QK1)
Y76C (p.Tyr76Cys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y76C (p.Tyr76Cys) variant details
- p.Tyr76Cys
- ExAC rs758294660
- TOPMed rs758294660
- gnomAD rs758294660
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available