A2A (p.Ala2Ala) variant of PINK1 (Q9BXM7)
A2A (p.Ala2Ala) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 1-20633554-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available