V854A (p.Val854Ala) variant of CASK (O14936)
V854A (p.Val854Ala) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Syndromic X-linked intellectual disability Najm type; FG syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
V854A (p.Val854Ala) variant details
- p.Val854Ala
- rs1569283243
- ClinGen CA412989165
- ClinVar RCV000758008
- Ensembl rs1569283243
- Likely pathogenic
- Syndromic X-linked intellectual disability Najm type; FG syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.96
- MetaLR 0.24
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Syndromic X-linked intellectual disability Najm type; FG syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)