L209P (p.Leu209Pro) variant of CASK (O14936)
L209P (p.Leu209Pro) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
L209P (p.Leu209Pro) variant details
- p.Leu209Pro
- rs1556014749
- ClinGen CA412998045
- ClinVar RCV000498072
- ClinVar RCV000621770
- Pathogenic/Likely pathogenic
- not provided; Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic/Likely pathogenic (not provided; Syndromic X-linked intellectual disability Najm ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel CASK mutations in cases with syndromic microcephaly. (PMID 29691940)
- Cited in: An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus… (PMID 30549415)