A85A (p.Ala85Ala) variant of PRPH2 (Peripherin-2)
A85A (p.Ala85Ala) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A85A (p.Ala85Ala) variant details
- p.Ala85Ala
- gnomAD 6-42722080-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.94
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available