S22N (p.Ser22Asn) variant of RHO (Rhodopsin)
S22N (p.Ser22Asn) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- ESP rs376111618
- ExAC rs376111618
- TOPMed rs376111618
- gnomAD rs376111618
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.43
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available