R193I (p.Arg193Ile) variant of CASK (O14936)
R193I (p.Arg193Ile) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
R193I (p.Arg193Ile) variant details
- p.Arg193Ile
- rs1569379996
- ClinGen CA412998355
- ClinVar RCV000762626
- Ensembl rs1569379996
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.99
- MetaLR 0.21
- MetaSVM -0.70
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available