S76S (p.Ser76Ser) variant of PRPH2 (Peripherin-2)
S76S (p.Ser76Ser) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S76S (p.Ser76Ser) variant details
- p.Ser76Ser
- rs371990988
- gnomAD 6-42722107-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.81
- Population evidence available
- Structural context available
- Literature evidence available