A92A (p.Ala92Ala) variant of PRPH2 (Peripherin-2)
A92A (p.Ala92Ala) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A92A (p.Ala92Ala) variant details
- p.Ala92Ala
- gnomAD 6-42722059-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 7.31
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available