V175A (p.Val175Ala) variant of CASK (O14936)
V175A (p.Val175Ala) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V175A (p.Val175Ala) variant details
- p.Val175Ala
- rs781247892
- ClinGen CA10390371
- ClinVar RCV000483810
- ClinVar RCV000685120
- Uncertain significance
- Intellectual disability, CASK-related, X-linked; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.35
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked; not provided; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)