T56A (p.Thr56Ala) variant of CASK (O14936)
T56A (p.Thr56Ala) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- rs2519892374
- ClinGen CA413000659
- ClinVar RCV003625430
- Benign
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.30
- CADD 20.60
- PolyPhen-2 0.12
- SIFT 0.65
- ClinVar: Benign (Intellectual disability, CASK-related, X-linked)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.131
- Cited in: CASK Disorders. (PMID 24278995)