R61Q (p.Arg61Gln) variant of CASK (O14936)
R61Q (p.Arg61Gln) in CASK (O14936) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- gnomAD rs1341763226
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.38
- CADD 26.40
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.6e-06)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.421