A38A (p.Ala38Ala) variant of PINK1 (Q9BXM7)
A38A (p.Ala38Ala) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs758019868
- gnomAD 1-20633662-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Literature evidence available