N75N (p.Asn75Asn) variant of PRPH2 (Peripherin-2)
N75N (p.Asn75Asn) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N75N (p.Asn75Asn) variant details
- p.Asn75Asn
- gnomAD 6-42722110-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 5.98
- Population evidence available
- Structural context available
- Literature evidence available