N75S (p.Asn75Ser) variant of PRPH2 (Peripherin-2)
N75S (p.Asn75Ser) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- TOPMed rs749097332
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available