S810N (p.Ser810Asn) variant of CASK (O14936)
S810N (p.Ser810Asn) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S810N (p.Ser810Asn) variant details
- p.Ser810Asn
- rs1602220170
- ClinGen CA412990245
- ClinVar RCV000990796
- Ensembl rs1602220170
- Pathogenic
- Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Pathogenic (Syndromic X-linked intellectual disability Najm type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)