C82C (p.Cys82Cys) variant of PRPH2 (Peripherin-2)
C82C (p.Cys82Cys) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C82C (p.Cys82Cys) variant details
- p.Cys82Cys
- rs1242862941
- gnomAD 6-42722089-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 9.38
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available