S128T (p.Ser128Thr) variant of RINL (Q6ZS11)
S128T (p.Ser128Thr) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
S128T (p.Ser128Thr) variant details
- p.Ser128Thr
- rs201019662
- ClinGen CA9421413
- ClinVar RCV004451817
- 1000Genomes rs201019662
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available