S128N (p.Ser128Asn) variant of RINL (Q6ZS11)
S128N (p.Ser128Asn) in RINL (Q6ZS11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S128N (p.Ser128Asn) variant details
- p.Ser128Asn
- 1000Genomes rs201019662
- ExAC rs201019662
- TOPMed rs201019662
- gnomAD rs201019662
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available